Eye Color and Genetic Diseases of the Eye

Q&A about the inheritance of eye color and eye problems and eye diseases determined in whole or part by genetic factors. Examples include heterochromia iridium and Norrie disease.

Other information about eye problems:

-The Centers for Disease Control and Prevention (CDC)

http://www.cdc.gov/ncbddd/dd/ddvi.htm

-Medline Plus

http://www.nlm.nih.gov/medlineplus/eyediseases.html

-National Eye Institute

http://www.nei.nih.gov/health/

Subtopics

Adult-onset vitelliform macular dystrophy (AVMD) (1) Anophthalmia (1) Axenfeld-Rieger syndrome (ARS) (4) Blepharophimosis (3) Blue sclerae (1) Brushfield spots (1) Cataracts (1) Choroideremia (1) Coats disease (2) Coloboma (4) Color blindness (11) Congenital stationary night blindness (CSNB) (1) Corneal dystrophy (1) Duane syndrome (3) Epicanthal fold (1) Eye Color Inheritance (6) Fuchs corneal dystrophy (1) Glaucoma (1) Gyrate atrophy (1) Heterochromia iridium (more than one eye color) (20) Homonymous hemianopsia (1) Hypertelorism (1) Leukocoria (Cat eye reflex) (1) Macular disorders (2) Miscellaneous/Unclear Diagnosis (9) Myopia (near sighted) (4) Norrie Disease (10) Ocular albinism (1) Peters Plus syndrome (1) Ptosis (1) Retinitis pigmentosa (RP) (5) Retinoschisis (1) Strabismus (1) No Sub-topic (0) Showing 103 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	Hi, I am a resident and was wanting to know more about Retinitis Pigmentosa associated with deafness. I was thinking Usher Syndrome. The reason I am contacting you is that is there any correlation known between Retinitis Pigmentosa and Cirrhosis? View Answer		2009-11-11


	My 4 month old daughter has blue eyes in one of them there is a portion of the iris that is brown (sectoral heterochromia ). She also has some constipation issues that started around 2 months, she has inconsistent bowels and when she does go its very watery and is a lot. At her two month visit her pedi said this was ok. Ive been reading about the sectoral heterochromia and saw it was a marker for Hirschsprung's disease. What percent of Hirschsprung cases have a Sectoral heterochromia and what percent of Sectoral Heterochromia patients have Hirschsprung's disease? Id like to see how common this is and see if its a cause for concern that I should bring up to the doctor again. There is not much information regarding the relation of the two just that one is a marker for the other. View Answer		2009-11-11


	Is there any research that color of one eyes have any correlation the "overall" health of a person? Eg. dark colored eyes more overall health problems vs. lighter colored eyes less overall health problems. View Answer		2009-11-05


	I am extremely nearsighted (with resulting detached retinas in both eyes at ages 28 and 40), and my husband has normal vision. Is it possible that we could have a child who is farsighted? Thank you! View Answer		2009-10-23


	please if you can tell me what i should do now that i know are baby has norries disease at 18 weeks is abortion a normal option a fair option? View Answer		2009-09-29


	my wife is a gyrate atrophy holder, can she transfer this disease to our coming children? and what is the percetage, i will highly appreciate it for u View Answer		2009-09-16


	I recently gave birth to a baby girl. Everything seemed normal until we realized that she was born with no eyes(anophthalmia). this was my first pregnancy but my boyfriend has other children that are all perfectly healthy.I really want to know what would cause this and if it will happen again. They did genetic testing at the end of may and they still have not given us the results. How long will they take? Also all my ultra sounds looked normal throughout my whole pregnancy so if I were to get pregnant again will they be able to do other tests to determine if this happened again? Please help. In need of answers. View Answer		2009-09-11


	I am a woman with normal colour vision dating a colour blind man. I am wondering how the colourblindess from my boyfriend might affect our children or our grandchildren. Thank you. View Answer		2009-08-24


	My grandmother and her sister both suffered from RP..they went completely blind. I was told it skips generations and I wanted to know what my chances are of also having RP?!? I've been recently having eye problems and my right eye tends to go blurry. Am I at a high risk for getting RP? Thank you View Answer		2009-08-22


	My daughter was recently diagnosed with Choroideremia. Her father has the disease & we were told that our daughter would only be a carrier, like his mother. In the photographs of her eyes you can see a lot of dark areas & there is a thickening of the macula, especially in the left eye. Her peripheral vision is not compromised at this point, she's 19. Is this from a mutated gene? Her father is not completely blind, but he has many limitations. His grandfather had it , but not to the degree that her father does. We know that with her being a carrier she would pass it on to a firstborn male, but since she has the disease, is there any risk that a child could be born blind? Do females experience the same rate of deteriorate as males? Any help in understanding this will be much appreciated. Thank you. View Answer		2009-08-19


	Is there any way to tell which type of blepharophimosis i have and to tell the chances of being infertile? I was diagnosed and treated 20 years ago. View Answer		2009-07-16


	My nephew was recently diagnosed with congenital stationary night blindness. He's my husband's sister's son. My husband and I do not have children yet. From what I've read my husband cannot be a carrier because if he had the mutated gene, he'd have the condition. Because there is a case of CSNB in our family, should my husband undergo any type of genetic testing before he and I have children? How common is Congenital Stationary Night Blindness? If there are not any cases in my family, should I be concerned about being tested for it? View Answer		2009-07-09


	Can you tell me if X-chromosome inactivation can affect the vision of a woman hetyerozygous for an X-linked color-blindness gene? View Answer		2009-06-04


	I have been researching Axenfeld-Reigers Syndrome as my mother has this rare eye disease, she has had one eye removed and the other had very little vision in it due to glaucoma. She also had the dental problems and had dentures made at 16. I so far at age 24 do not show any signs, my IOP have been normal and so have all my eye exams. My question is if I do NOT have the disease, could I be a carrier and still pass it on? My seven year old has severe strabismus, which I have read can be related. Her IOP have been normal so far. Should we get her genetically tested? View Answer		2009-05-11


	I have two boys who have X-linked Retinoschisis. We have undergone genetic testing about six months ago. We also have a teenage daughter. Do studies suggest that we have our daughter undergo genetic testing as well, to see if she is a carrier of this disease? View Answer		2009-04-28


	I heard about chimerism, and I'm wondering if I could be a chimera. I have a partial Heterochromia, and other differences between apendages on either side of my body. Who would I go see to get DNA tested to find out? View Answer		2009-03-25


	My sister in law has just given birth to a baby with Norries disease, it has not shown itself in my Husband's family previously nor has it shown itself in her partners family. Myself and my husband, are looking to start a family and wondered what the possibilities of us having a child with this condition or a related condition would be? Thanks View Answer		2009-03-17


	I am 15 years old and recently found out that I do have Sectoral Heterochromia (Blue and Green). I have two questions to ask. First off, tons of pictures and descriptions of the disease show/say that they have a line or section of different color on one or two eyes. Is it alot rarer if they almost perfectly split both eyes, because unlike most, mine split perfectly up and down with a definitive difference and no transition between the two. Secondly, what are the odds of having Sectoral Heterochromia, like 1/1000000 or something? View Answer		2009-03-13


	My father's side of the family seems to have "Asian" eyes, although they are certain we are not of Asian descent. I too, have eyelids that do not seem do have the double crease as most Caucasians do. I was wondering what this "condition" is caused, why I have it and/or what I can do to get rid of it. View Answer		2009-03-09


	I am 29 and have Duane's syndrome. Only one eye, the left, is effected. There are no known cases of this found in my family, but I have recently read that it is thought to be caused by a mutation in the CHN 1 gene. I was wondering what percent chance I have of passing this on to any offspring. View Answer		2009-03-08


	Hello. My son was born in 2008 and at 2 months of age his pediatrician noticed there was no red reflection in his right eye. We were referred to a pediatric eye specialist who wants to rule our Norrie Disease and Fevr. I have another son whose vision is not affected and am curious if that is any indication of whether or not my second son has the disease. It is my understanding that only the morther can pass this on to a son. My husband and I had blood drawn for genetic testing but have been waiting since October for results. We just found out that the lab has not started our study. Is the time-frame normally this long? Can we request it be sent somewhere else? We are very anxious, as you may imagine to find out if our son has Norrie's. He is now 7 1/2 months old and seems to be progressing fine milestone wise, and his hearing also seems normal. His left eye, according to the specialist looks perfectly fine. Any information you could provide would be appreciated. Thank you. View Answer		2009-03-06


	I have a genetic factor known as BPES and have experienced infertility issues. I have totally irregular cycles, but upon having an ultrasound of my ovaries and a hypsalpingogram everything appeared normal physically. Also, developing follicles of different sizes appeared in the ovaries. I am now 39 years old and without meds I have one or two cycles a year. Does the BPES affect ovulation if follicles are developing? Is it still possible to conceive if my body will regulate with meds? Do women who have BPES related with infertility still develop egg follicles but don't conceive? View Answer		2009-03-06


	my 8 month old daughter has blue eyes with small white dots on the outer edges of her iris. i have never seen this before and doen research which shows these could be "brushfield spots" or a stellate pattern. these both seem to be related to syndromes and have me scared to death. can "normal" children have these patterns on the eye? thank you in advance for your time. View Answer		2009-02-25


	Will there be a genetic solution for this condition in the near future. I have a daughter with this condition and I am hoping that she does not pass this on to her children. By the way the condition is Blephorophomosis View Answer		2009-02-17


	I have a brown wedge in my blue eyes. Have read that this is symtomatic of being a Chimira. Is this true? What else can it be a symptom of? View Answer		2009-02-09


	I have a mutated iris of the left eye, the bottom half of it is green and the top half is brown like my right eye. I am also schizoaffective; are my rare human conditions likely to effect scientific research as a test subject? If so, how do I go about this? View Answer		2009-01-14


	My son (18 months old) has sivior vision impairment from brith. He cant see out doors. In home, he can see see upto 1.5 feet (with his eyes shaking vertical). If he has to focus on longer than that, his eyes goes on horizontal movement (nistagamus). When he sees electric light he starts rubbing his eyes. Doctor said he is victim of Rod-Cone Dystrophy due to gene mutation. Please let us know if there is a Test center to figure out the gene that is missing. I would like to know this information to keep watching the reasearch progress in that area and also get a prenatal test to check the genes presence when we go for next Kid. View Answer		2009-01-13


	My daughter was checked for retinoblastoma in April of '08 after seeing the "cat's eye reflex" in many photos - the tests came back negative & the physician said that it was probably a fluke & relative to the flash reflecting off the optic nerve. However, lately (she's 18 months old now) she has been picking at the same eye as if it hurts. When asked if her eye hurts, she points at the eye in question and we continue to see the white pupil in photographs. Is it possible to not have seen anything in the initial exam (w/ pupil dilation) & there be something there now? View Answer		2009-01-11


	I am 58 and have been diagnosed with Stargardt's disease. My brother has also been diagnosed with this condition recently and he is about 50. My niece who is 13 has aslo been diagnosed with this condition. My concern is do my children have a chance of developing the disease. My son is 30 and my daughter 27. Also, what are the chances that their children can be affected. View Answer		2009-01-05


	I am a mother of fixing to be two daughters. In both of my mothers eyes she has colobomas. she is almost blind in her left eye and the other eye is blurry. And me i have, the same, two colobomas, but my right eye is blind and my left is blurry. With my first child i was 15 and the fathers eyes are perfect 20/20. my first daughter had normal eyes. now i am just so worried about my second. should I be? I just want to have some reassurance about the outcomes of my second also being okay. and by the way me and my mom are the only two in the family that have it. they say that about two or three generations ago my great, great grandmother had the same thing. the question broken down is: What are the outcomes of my second child not having a coloboma to having one? View Answer		2008-12-07


	Hello. I am a student in 7th grade, and I was wondering about heterochromia. I really like the way heterochromia looks (not so much some of the causes), and I have two brown eyes. I wish more than anything to have heterochromia, any colors, green/brown, green/blue etc. (My friend at school has one green and one blue, she doesn't know why, and was born with two blue eyes. Why is that?) Down to the point, is there any way to induce heterochromia that doesn't involve foreign objects in your eye or a disease? I hope there is. Please answer soon, Thank you. (Also, this website is very interesting to read, I like it.) :) View Answer		2008-12-01


	My 1 year old son has heterochromia His right eye is brown and his left green. He also has mild ptosis in his left eye. He had a difficult birth and despite not having torticollis was reluctant to turn his head to the left as a newborn and developed positional plagiocephaly on the right side. We recently saw a new paediatrician and he initially suspected Horner's syndrome but on examining his eye found that his pupils are of equal size and his left pupil reacted normally. Although probably unrelated he also suffered frequent uti's and an ultrasound found that he had hydronephrosis of the left kidney. He is about to undergo further testing to find the cause of this. He also has regular ear infections in his left ear only which always appears red. I am aware that ptosis is common and that heterochromia is uncommon but was wondering if you could give me an idea of the likelihood of having both of these symptoms with no family history and without an underlying cause. View Answer		2008-10-11


	Hi, I am doing a case study on colour deficiency. I would like to know what kind of research is being done on colour deficiency? Thank You View Answer		2008-09-21


	I am 15 years old and I have had sectoral heterochromia my whole life. My right eye is blue and my left eye is part blue and part green/brown. My mother has blue eyes, and my father has green eyes. I also have a brother with blue eyes. No one else in my family has heterochromia. I was wondering from which parent I inherited it from, or if it was inherited at all ? View Answer		2008-09-12


	What is Hypestelerism,what do it come form ,what are the side efects,can you tell me a little about it. View Answer		2008-08-26


	My husband has severe blethpharmatosis. We have 2 children and our son was born with an even more severe form. Our daughter was not. We now know our son has a 50% chance of having a child afflicted with ptosis. My question is whether or not our daughter also might have a child with ptosis. She is getting married and I think it is important for them to know. No history of ptosis in her fiancee' family. View Answer		2008-08-23


	I work with the birth to three program and have evaluated a little boy with double colobomas, mild gross motor delays, and large head circumference. Would it be appropriate to refer this child to a geneticist for a genetic work-up? Can the colobomas signify any specific disorders? Thanks! View Answer		2008-07-28


	Good day I have a one year old baby boy with what is called Dwain syndrome Can you advice if there is any special way to treat the boy with such thing, is there really no cure for, dose it will affect his career on a longer stage and I really appreciate if you can provide me with any detailed letter about this thing View Answer		2008-05-28


	I am the parent of two adult sons. My oldest is fine and is about to be a parent. My youngest son has Norrie's Disease. I found out I was a carrier after my 2nd son was born blind. My father is also blind. He has two brothers, one sighted with 5 children and several grandchildren, w/o any Norrie's present; his other brother does have Norrie's. Is there a chance of my sighted son passing the Norrie's to his grandchildren? I know his children will not be affected by the blindness, but could a daughter be a carrier also? View Answer		2008-05-25


	I am 33 years old and as a baby I was diagnosed with Axenfeld-reigers syndrome. I am the only memeber of my family with this condition. I have decreased vision in my right eye due to increased pressures when I was younger. In November I gave birth to Kai my son, his right eye was very cloudy dr's diagnosed catarac at first. Then I informed them of my condition, Kai was also born with heart defects. Slight Ebstein's Anomolay was diagnosed. Kai died on 30th April 2008 aged just 17 months. My husband and would like to try for another baby but are scared of the outcome. Is there any evidence of axenfeld-reigers and chd being linked. Previous to Kai we also miscarried at 8 weeks due to there being no heart beat. Would you recommend I get tested for abnormal genes? View Answer		2008-05-20


	I am a 47 y.o. male, with a brother of 59. Our parents were second cousins. Two years ago I started realizing my eyes were brown in the middle but the edge, more than half iris, was in fact light blue-grey under side light while purple under direct light. A female cousin of my mother?s, sharing her same surname, has my same eye colour pattern although lighter eyes that never look purple. My mother had brown eyes, my brother as green as our father's. Our mother was brown haired, our father blond with red beard, my brother blond as a child and now brown. I was brown but acquired blond flashes over time. Finally, both my brother?s children are healthy, brown haired and green eyed. I suppose my own eye colour might be x-recessive from my mother?s father?s mother. I have read of a mutation causing purple eyes and long youth ? in fact I look a lot younger, my brother does not. Am I going to pass something good or bad to my offspring? View Answer		2008-05-03


	I was diagnosed with secondary open-angle congenital glaucoma when I was 12 years old. In addition I was diagnoised with Riegers syndrome, both which I inherited from my father. When I was in high school I watched my father lose his job and go blind due to his glaucoma.I never knew anything about Reiger's syndrome nor did my docs past the eye symptoms.In 2004 IOP began to spike and over the course of 4 years I've had about 10 surguries. Perhaps the worse of all this is the fact that I lost my job and have become disabled due to my surgeries. My fiance and I want to marry soon and have children but, I do not want to pass this burden on to my child. Does this type of glaucome normally pass from the father or mother? My fiance thank GOD has perfact eyes. View Answer		2008-04-24


	I am a 7th grade life science teacher and there are some questions that I consistently get from students that I cannot answer: 1. We have always learned that brown eyes are dominant and blue eyes are recessive, but how do green and hazel eyes factor in? 2. If the mother is green-eyed and the father is brown eyed, how can the child be blue eyed? 3. Why do eye colors change when: a) the child gets older and b) when their mood changes (does this really happen?) Thank you! View Answer		2008-04-02


	Are there any musculoskeletal or spinal anomalies associated with Peter's Plus syndrome? I was unable to find any on the genetics website, but have an 11 yo girl with Peter's plus who has thoracic back pain of a constant nature, no worse with activity, no numbness or tingling, no radiation of pain. She has no neuro signs on exam, nl reflexes and normal thoracic/lumbar xrays. She does have a hx of mild occasional nocturnal enuresis. thanks for any info. View Answer		2008-03-25


	I HAVE DARK GREE EYES. MY MOM HAS BROWN AND MY DAD HAS BLUE. MY BABBYS DADDY IS GREEN EYES TOO BUT HIS MOTHER IS TELLING ME THAT IF THE BABY DOES NOT COME OUT WITH GREEN OR BLUE EYES THAT ITS NOT HIS BABY BECAUSE IT WOULD JUST BE IMPOSSIBLE FOR THE BABY TO HAVE ANY OTHER COLORED EYES. IS THAT TRUE? JUST BECAUSE I HAVE TWO DIFFERENT EYE COLOR PARENT. View Answer		2008-03-21


	I was diagnosed at the age of 2 with Coat's Disease, and am totally blind in my right eye. From what I read, this specific disease is due to a mutation of the NDP gene. My question is, if and when I decide to have children, how much do I have to worry about passing this on to them, especially any males that I end up having in the future? This topic worries me a bit, because the disease hasn't been a nice one to have to live with. I've adapted quiet nicely, but don't wish it upon anybody. View Answer		2008-03-20


	I am dating a 35 year old man with Axenfeld-Riegers Syndrome. He is fully healthy with a small cornea imperfection, the eye is a little blue in one area on one eye, he has brown eyes. He also has had dental problems that have been fixed with implants. He is fully functional, graduated top of class in college, tall, handsome, good looking, ect. Our question is what are the traits of AxenFeld-Riegers has an adult and will he pass it on if we have children? We are thinking about marriage and children. He is also concerned about his condition getting worse, but he is 35 and healthy with no major heart/blind problems at the moment, just dental upkeep. Can you offer some insight into this condition? Thank you. View Answer		2008-02-26


	My husband has been dignosised with adult vitelliform dystrophy. May question is, what should be done as far as our children go? We have a 2 year old son and an 8 year old daughter, he has 3 siblings, and he is the first (that we know of) in the family to have such condition. View Answer		2008-01-21


	I am 28 years old and have progressive cataracts diagnosed at 25 and soon to have surgery. My grandfather had it at 35, mom at 33 and sis at 32. I also have non-ovarian cyst PCOS with anovulation and high levels of insulin. I have an uncle that has an inherited form of kidney disease. He had a transplant and both his daughters have kidney disease. On my grandmas side there seems to be prevalence for brain tumors and aneurisms with the females, to add to the interesting info. My husband and I want to have children and wondering if the kidney and cataracts could be linked to a specific genetic disorder. View Answer		2008-01-17


	I am a 49 yr old woman who was recently diagnosed with a homonymous hemanopsia and found to have encephomalacia in the area which corresponded to my visual field defect. My sister at age 35 yo had a stroke (minimal residual defects) and had sustained a pregnancy loss at 23 wks as well as 3 SABs in first trimester. She was found to have 5,10-methylenetetrahydrofolate reductase deficiency. I had one daughter at term followed by secondary infertility for 2 yrs, then had a loss at 23 wks attributed to a cervical incompetance. I also 4 early trimester miscarriages and then an ectopic and was unable to have any further children. Lipids borderline & concern re: clotting disorders as I had been on Aspirin as well as Lovanza over this last year and sustained a probable embolic event. What testing do I need to have done at this time? Should my 18 yr old dghtr also be tested? How common is this defect as I have not had this ordered by my colleages in evaluation of coagulopathies? View Answer		2008-01-07


	My second born 54 year old son is a gentle, kind and loving person and I love him very much. Recently, because of focusing problems, he went for an eye examination. He said his doctor told him he had "Dwain's syndrome". Knowing that I am research oriented, my son may have deliberately used the word "Dwain" versus "Down Syndrome.My son has lived an almost normal life despite health, scholastic and job problems. Our small community lacked needed assistance. Therefore, some abnormalities I recognized early in life became evident..but none attracted sufficient attention from the teachers for referral to professionals.If there is anything you can do shed some light...but more importantly provide me with some positive genetic info for me to give my son greater confidence when we discuss the situation, I will be eternally grateful. Or should I just play ostrich in the sand and simply pretend that I am dumb?I will anxiously await your response. View Answer		2007-11-23


	What is the life expectancy of a child with norrie syndrome? View Answer		2007-11-20


	I was born with no black pigmentation on the choroid in my eyes. My eyes are extremely sensitive to the sun and my maternal grandmother has the same problem. Could this possibly be ocular albinism, oculocutaneous albinism, or some other genetic condition? View Answer		2007-11-07


	my baby has one brown eye and one blue eye and i understand this is called Heterochromia Iridium. I have been reading the causes of this condition such as genetics ,chimera, mosaicism,Familial heterochromia . My doctor & health visitor have not mentioned any of this , i have read an on-line medical encyclopedia that states the following ; If you notice new changes in the color of one eye or that your infant has two differently colored eyes, consult your health care provider. A thorough eye examination is needed to be sure this isn't a symptom of a medical problem. Some conditions and syndromes associated with heterochromia, such as pigmentary glaucoma, can only be detected by a thorough ophthalmic exam. can you confirm if tests should be done on my baby to confirm the reason behind the Heterochromia Iridium. View Answer		2007-11-02


	I am a special education teacher working with young children with ASD. I am trying to find a conclusive colour blindness test to establish whether a student in my school suffers with the condition. He cannot use the standardised tests because he cannot label or discriminate numbers or letters (commonly used in most tests). Do you know of a test which uses common items or animals for example??? Thank you for your time. For the record the students father is colourblind also. View Answer		2007-10-13


	I have a question about the Norrie Disease. I am hoping that someone can help me with my questions for a research that my professor has me doing on this particular disease. How many bas pairs (I don't know what a bas pair is) difference from normal cause this disorder? I have been searching the web for ever trying to find the answer to this last question left for my research and could not find a answer for it and my paper is the following monday. So I am hoping that this is my last stop for a answer for it. Thank you in advance for your time. View Answer		2007-09-19


	To Whom it May Concern: My husband & I are planning to start our family soon, but we have concerns about passing on the Ocular Albinism that runs in my family. My father is affected, and I've shown to be a carrier. I know that only my sons would be affected, but don't know what or if the chances are that I could have an unaffected son. While having a boy with OA wouldn't be the end of the world (by any means) I feel the need to do everything in my power to avoid it if possible. Is there anything I can do to prevent this from passing on? View Answer		2007-09-18


	Hi,My four-year-old son seems to have blue-yellow deficiency. Our pediatrician wasn't even aware that such a color blindness could occur so she sent us to a pediatric ophthalmologist. He wasn't able to adequately test for blue-yellow deficiency but did verify that my son's eyes are physically normal. He can offer no explanation except for what he called a 'developmental blip.' He says that blue-yellow deficiency is out of the question because of the lack of statistical probability. My son is physically and mentally equal or more capable than his peers; he shows no signs of disease although no formal testing has been done. Since the moment that we began teaching colors, at around age one, my son has consistently confused blue and yellow while red and green are easily recognized. Purple and orange also seem to be a problem. My son is incredibly bright and intuitive and I can't imagine that he is simply experiencing a 'developmental blip' between blue and yellow when in all other regards he is perfectly normal. My greatest concern is the association between blue-yellow deficiency and diseases such as leukemia and diabetes. My aunt died from leukemia before age 40 and adult-onset diabetes is common on both sides of the family. Should I drop the issue until my son is older as the ophthalmologist suggested, or should I push for further testing? Any input that you can give would be greatly appreciated. View Answer		2007-08-20


	I have a daugther and I was wondering. My child has a lazy left eye that requires her to wear glasses to keep her left eye straight, and for her wink reflex not to be bad. This trait came from her dad's side of the family, his family members that have this, they all have lazy left eye. This ranges from mild cases to server (meaning both eyes are crossed even with glasses). I am thinking this is strong trait in his family since all the siblings have left lazy eyes even the grandparents and first cousin. Will my next child have the same problems if this is a strong gene in his family. View Answer		2007-08-06


	My daughter and I both have a condition where we see things in our entire field as being dotted. These are not floaters. When our eyes are shut we see minuscule dots going on and off in our entire fields. The whole field is dotted. At night, my entire field is dotted. In normal light, I have noticed that certain things are dotted such as walls and the sky. These extremely tiny dots appear to be flickering on and off. Things with texture such as a carpet do not appear dotted. While my visual acuity is no longer normal due to complications of type 2 diabetes followed by type 1 diabetes, my daughter has normal vision. She sees dots all of the time. Her dotted vision appears worse than mine. My son does not see this way. My daughter and I both have PCOS. In addition to type 1 diabetes, I have Hashitmoto's Thyroiditis. Is there a name for this condition? I have spoken to various ophthalmologists. They have been of no help. Both my daughter and I have large eyes. Can the distance between the rods and cones be causing this condition? View Answer		2007-08-04


	Is there a way to test genegically for Fuchs corneal dystrophy? One of my siblings has it and got it from one our parents who never showed signs of it. View Answer		2007-05-10


	I have noticed that my granddaughter (age 11 weeks) has blue sclera.She is otherwise healthy, thriving, eating and doing well.Are there any other causes of BLUE SCLERA besides OSTEOGENESIS IMPERFECTA?And are there any test that can (or should) be done at this time to see if she is affected with this condition? View Answer		2007-05-09


	Dear Sir, Madam: I am a patient of Dan Martin at Emory Eye Clinic. I have a macular disorder. It cannot be classified as ARMD as I am only 43 years old. Dr. Martin has used the term "Stargardt's", but has not comitted to a specific diagnosis. Is there a genetic test I could under go to see if I have the ABCR gene or any gene that has been associated with any type of Macular Dystrophy? I am very grateful for you time and service. View Answer		2007-05-08


	My grandson is colorblind. His mother was told that he inherited it from her. Neither I, nor my four brothers have this and my wife's three brothers do not.She was told it is inherited from the mother. How can this be?Where could it have come from? View Answer		2007-04-29


	I currently have 2 students (brothers) with Norrie's Disease. Both have been blind since birth. Both are incredibly bright and articulate. However, they both are doing poorly in school. They are both also auditory learners- which is scary given the possibility of hearing loss. Both boys also display autistic-like behaviors (hand flapping, fixating, walking on tiptoes, etc) My question is how much of this can be attributed to Norrie's? What is the possiblity of several diseases (e.g. Norrie's and Asperger's and epilepsy) going on at once? What educational strategies can I use to help these kids be successful? View Answer		2007-03-20


	My son was born with congenital bilateral cataracts. No one in my family has even heard of this, much less had it. The first eye specialist we took him to swears it is hereditary and he can tell this by the shape, size, location of the cataracts, but there was never any testing done. The new dr we have taken him to is concerned that we haven't found out anything about it. Can genetic testing tell me if he may have an underlying disease that we dont know about? My family has had 'other' medical problems but never cataracts. I know there are things like 'lowes syndrome' and others that can cause you to have cataracts and you not see any other effects of the disease until later in life. I am wondering if there is a way to test to see if he has a problem now so that we would be able to prepare or maybe even head off any other complications before they arise. My father had kidney problems, renal failure, a variety of health problems and almost died at age 3. I'm almost scared there is something going on in our family noone has pinpointed. Is there one test that would tell us this or would we have to test for each individual disease or abnormality?? View Answer		2007-02-25


	My 18mo son was born with a cystic hygroma, which was discovered through a prenatal ultrasound. The hygroma is under his righ armpit, and at the time of birth was about the size of a baseball, over the last 18 mo it has decreased, and now appears only as a fat roll to the eye. We just recently found out that he has Duane's syndrome in his left eye. Which through my research I have found is related to Chromosome 20. My question is are these two disorders related and/or liked? I am not sure if it makes a difference, but I am RH- and the child is +. Thank you. View Answer		2007-02-09


	The doctors are getting ready to test my son for color blindness. I am not familar with my biological father or his health conditions/issues. Could he be a carrier and not be colorblind or would he have to have been colorblind in order to pass this gene onto me? I am asking because I do know that he was in the armed services, so I am guessing that he was not color blind. I am assuming that you could not be in the army and be color blind. My assumption there may be wrong though. View Answer		2007-02-05


	I am 27 and just had lasik surgery. Prior to the procedure I was informed by my mother that Retinitis pigmentosa (RP) runs in her side of the family. I was told by my doctor that I show no signs of this disease right now and my eyes are very healthy. My mother also told me that her grandfather developed the condition when he was in his late 70's, but 2 of her first cousins are already suffering from it. They are both very young - one in her late teens and the other in her late twenties. I am getting married in a couple of months and this has brought up a couple of different questions between my fiance and I. First - is this something that may still happen to me later and what are the odds of my children having RP. I was told that this disease skips generations - so could I be just a carrier and my children have it? On my fiance's side there are casses of altimer's, his grandmother died of skin cancer, his mother had skin cancer removed, his grandfather died of brian cancer, his uncle just had a brian tummer removed, his father is color blind, and I think there's a couple of other terrrible diseases in there somewhere. Is it possible to tell what my fiance and I might genetically be carring, develope, and pass to our children? If so- where can you have them done, how much do these kinds of tests cost, and is it something that insurance covers??? Now that I have given you ten different questions - if you could answer them it would be most helpfull. Thanks - for sharing your knowledge! View Answer		2007-01-16


	The disease of Retinitis Pigmentosa runs in my family. It only affects males...my mother has 2 brothers, both in which have the disease. Also my great uncle on my grandmothers side had it as well. None of my cousins have it or have had a child that had it. It seems to skip generations. I am coming to a time where I am thinking of starting a family of my own and are concerned with the chances that I carry this gene. Is there a test that might detect if I am a carrier? And what are my chances that I do ? View Answer		2007-01-15


	My boyfriend has blue cone defiency and he really won't tell me anything about it and I would like to know about it. Would you send me some information? View Answer		2007-01-02


	I am a 32 year old woman who was diginosed with Coats' Disease at the age of three. As a result, I am blind in my left eye. The blind eye also has Strabismus and turns out severly. What I want to know is how far they have come in determining what exactly is Coats' Disease. I have read that it seems to be a mutation of the NDP gene and is related to Norrie disease, but I would like to understand it better. I have six children and have had them tested. My oldest is the only one needing glasses but does not have the disease. View Answer		2006-11-03


	Our 16 year old son was diagnosed with Granular Corneal Dystrophy during his first eye exam. I have researched the Web for information, finding it scarce and my question is if this condition is inherited or was it random. Neither my husband or I can think of a relative that had this condition. View Answer		2006-10-15


	Hola desde espa?a ,un saludo muy cordial. Mi hermano tuvo un ni?o hace 2 a?os con ceguera y retraso mental,le han diagnosticado sindrome de norrie.Hace 4 a?os que la hermana de la mujer de mi hermano tuvo un ni?o con ceguera y retraso mental.A la vez que a mi sobrino tambien le diagnostican sindrome de norrie..........llevan 4 a?os medicando al primo de mi sobrino de epilepsia por unos ataques con combulsiones ,pero ahora le dicen que no lo es.Mi pregunta es:?es tan dificil hacer un analisis genetico que pueda tardar 4 a?os? Mi hermano pregunto si lo del ni?o de 4 a?os era genetico y le dijeron que no........ a los 2 a?os nace mi sobrino exactamente con las mismas caracteristicas.?Todo esto tiene sentido? ?Es verdad que desde el a?o 1927 no se ha estudiado esta enfermedad? ?Cuantos ni?os con este sindrome hay en todo el mundo? Gracias por leer esta larga lista de preguntas ,pero es que hay muchas dudas y muy poca informacion. Desde valencia un beso. View Answer		2006-08-04


	Is there a list of medications that should not be used for individuals with norrie's disease, if so may I please trouble you to assist me in finding this data? I am looking for the interaction between MOA-B Deficiency and medications in individuals with Norrie. View Answer		2006-07-29


	Hi,My husband is suffering from achromatopsia. I have gone through several websites and articles on the web on the chances that our offspring would inherit the same condition. Since achromatopsia is an autosomal recessive disorder, the chances of our offspring inheriting is largely dependant on me being a carrier. Is there any way in which we can determine if i am a carrier? Please let me know if the testing can be done anywhere in India or we will have to travel to US or some other country. View Answer		2006-07-20


	I have a question about eye color. My husband has blue eyes with yellowish flecks around the pupil and mine are light brown. We know we can have children with just about any eye color. Our daughter was born with dark blue eyes and gradually turned to green/blue and now the color is hard to determine at 18 months. Her eye color appears to be dark varying shades. Around her pupil is a brown ring then it's a shade of dark grey in the center of the iris and the outer ring is dark blue. In certain lighing you can see one color, for instance green or greyish-blue over another. In natural lighting you can make out all of the colors. My question(s) is, what color is this and how did she get such a myriad of colors from just blue and brown eyes? View Answer		2006-06-23


	Hi, I was wondering if you could give me some advice. My Mother was diagnosed at 45 yrs with Retinitis Pigmentosa. My uncle had been diagnosed as well with RP a few years prior. They are 2 out of 6 kids born from my grandparents. That would make this an autosomal recessive disorder, wouldn't it? There was no known prior history of anyone in my family having this disease before now. I'm a Mother of two small boys now, and I fear for my own vision but most importantly for the vision of my two small boys. What would you suggest for me to do at this point? Should I be concerned? Thank you so much for any help you have to offer. View Answer		2006-05-29


	Could it be possible for a male to be only slightly affected with Norrie's disease or a mutation of the NDP gene & not even know he has the problem? My 10 month old grandson was recently diagnosed with Norrie's-I am his matenal grandmother & probably a carrier. Before this, we had no history of blindness in the maternal side, but I have a son who has 1 small eye--no other major problems. My son (age 31) needs contacts for both eyes--was told about 5 years ago that he probably had Horner's syndrome due to birth trauma. Could he be affected without having major problems & pass carrier state to his daughters? View Answer		2006-05-06


	My son(15) needs more information about "Blue Vision". Can you give us more specific information. Information is hard to come by because it is so rare. We know that it is the chromo. 7 , effects 1/10,000 people, and male as well as female equally is at risk for this birth defect, and it is inherited. Is there any more information you can give us. View Answer		2006-04-19


	Do you know if there is any correlation between bad health, either immunologically or genetically, and people with green eyes. Also, has any study been done and, if not, what is the best way to go about it. View Answer		2006-04-11


	hello my son is 11years of age and has osteogenisis imperfecta type 1 .we just wondered if it causes any problems with eyes as he seems to look at people from the corner of his eyes, also his eyes dont seem to move much when a item is placed in front of him to follow. his eyes also seem to have a slight quiver. He has everything as listed .loss of hearing ,small growth , many fractures and so on. View Answer		2006-03-29


	I have no colorblindness in my family. My husband is not colorblind, however his father and his uncle are red-green deficient. What are the chances are children or grandchildren will be colorblind? Also, does color-blindness lessen by generation? View Answer		2006-03-16


	My 2 y/o son's eye is 2 different colors, which I believe to be partial heterochromia. A 1/3 "pie slice" of his eye is blue while the rest, and the other eye, are hazel. His pediatrician in the US was initially concerned, but determined that he is healthy, with no hearing loss or other signs of a genetic disease. Can the condition be caued by something in utero? He has a fraternal twin who does not have heterochromia, but I am concerned that since they shared the uterus, they both may have been affected. Should we have them both seen by a specialist or leave well enough alone? View Answer		2005-11-04


	I have had heterochromia iridis all my life, but never knew it had a name until I recently read about it. I was once told that this condition could be related to kidney problems (which I had as a child), but I have been unable to find any supporting information on this. Could you clarify whether this is true or not? View Answer		2005-10-12


	I have a 5wk old son whose irises are different in each eye. They are brown but each eye at the top has a clear line where the brown ends and there is then a small light blue area. Should I be concerned that this is genetic? I am going to bring it up at his next appt at the pediatrician but I am worried now. What could this be? View Answer		2005-10-04


	Can two brown-eyed parents have a blue-eyed child? Can two green-eyed parents have a brown-eyed child? If a mother has hazel or green eyes and a father has dark brown eyes, is it possible to have a blue-eyed child?My husband had blue eyes and I have brown. Can we have a child with blue eyes? View Answer		2005-09-14


	Hi, I have two different coloured eyes(which I have found to be called heterochromia iridium). I know it is caused by dominant/recessive genes. I have been reading that people with this can suffer from other diseases/syndromes related to it. Am I at risk and should I be looking out for anything? If both my children have same coloured eyes does this mean they don't have HI and are perfectly safe? View Answer		2005-09-14


	I HAVE HAD GLAUCOMA FOR THE PAST 2 YEARS NOW. I AM 50 YEARS OLD. I DO NOT KNOW WHO IN MY FAMILY OR MY PARENTS' FAMILY HAD GLAUCOMA. I HAVE A SISTER AND BROTHER - NEITHER ONE HAS IT. WHY DID I GET IT? MY MOM AND DAD DIED YOUNG AND I HAVE NO WAY OF FINDING OUT ABOUT THEIR PARENTS - THEY ARE NOT FROM HERE AND THEY DIED YOUNG ALSO. ME, MY SISTER AND MOTHER ALL WORE GLASSES AND ARE NEARSIGHTED. NOW MY ONE SON WEARS GLASSES AND HE IS FARSIGHTED. WILL MY OLDEST SON OR YOUNGEST SON DEVELOP MY GLAUCOMA? WHAT IS THE PERCENTAGE OR IS IT JUST MALES? WHICH SIDE OF THE FAMILY DOES IT TEND TO DEVELOP ON? WOULD IT BE MY MOM'S SIDE OR MY FATHER'S SIDE? View Answer		2005-09-14


	I am a 25-year-old female with bilateral colobomas. At the age of 12, I was diagnosed with juvenile glaucoma. The glaucoma has since been treated and is under control. The outward appearance of my eyes is "weird" to most. I conceal the look by wearing special contact lenses, which are hand painted. They create a normal fa?ade of the eyeball itself? making the deformity quite difficult to spot at times. I have light perception in the left eye. I was adopted at the age of six months, and therefore do not know much of my family background. What I do know does not really make much sense to me though. Apparently, my biological father is the parent that had the most severe vision impairment. I do not know where he is in life, so I am out of luck with information related to his medical history. My mother has poor vision, but due to age. I have been told, but not by a genetics expert, that my disorder is hereditary, and will be passed on? hence the name congenital. However, I am curious to know if there is a DNA test that can be done to verify if it is indeed genetic. I am also at that stage in life where my husband and I are wanting to start a family. Is there any test that can be done to test the fetus to determine if this has indeed been passed on? View Answer		2005-09-14


	I have Heterochromia iridis (different colored eyes, where one eye is of two colors), and I was wondering if there are statistics on how many other people have this trait? My particular case is independent of disease or disorder, but I was curious. View Answer		2005-09-14


	I have a sudden case of sectoral heterochromia iridis (one pie shaped area of my right iris is "losing" pigment). My eyes have always been brown; the left always slightly darker than the right. But I never had this wedge-shaped (hypo)heterochromia before. My eye doctor and even an ER trauma doctor said the structures, etc. of my eye are perfect; there are no lesions, no inflammations, etc...and its "just" heterochromia. But as I never had this before and the area (like 7-8 on a clock dial) is becoming more apparent every few days, I am concerned. I am a Caucasian, 42-yr-old male. Its something "new" and not something I or my mother or eye doctors in the past would have missed. It blends in under interior or ambient light but is apparent in direct or bright sunlight. Any help would be appreciated. View Answer		2005-09-14


	I have nearsighted of-12 in left and -20 in right. My father is also wearing glasses. Will this nearsightedness occur in my child?What are the possibilities of avoiding it from not affecting my child? View Answer		2005-09-14


	I have recently come across a man with pupils shaped like a cat's, that are slightly off-centre and could find no similar case on the internet or in any available medical book. Is this likely to be a genetic disorder? View Answer		2005-09-14


	I just recently found out about heterochromia iridium and iridis and my brother is 13 years old and he has 1 blue eye and the other eye is half brown on the top and green on the bottom. I'm reading all of these things about diseases and everything and I'm starting to worry. I just wanted to know what could have caused this, what might he have, what the symptoms are and what should we do about it if anything? From what I've read he does have 1 or 2 symptoms, for example he has had some problems in school and I believe he may have a learning diability. View Answer		2005-09-14


	I was born with blue eyes but when I was 2 my left eye chaged to a hazel color. When I was in 3rd grade I went to the eye doctor for the darker spots on my hazel eye. He said it was a birthmark but could it be ocular melanocytosis? Both of my eyes are normal and both iris' are normal as well. Is it a birthmark or ocular melanocytosis? View Answer		2005-09-14


	I'm nearsighted (-8); so is my brother, dad, and my paternal grandfather. I'm afraid that my future children will be nearsighted too. Is it possible to prevent nearsightedness with "genetic enginering"? View Answer		2005-09-14


	If I have all the dominant traits (dark hair, brown eyes, and darker skin), why does my daughter have pasty white skin, red hair, and blue eyes? View Answer		2005-09-14


	If a brown-eyed man marries a blue-eyed woman and they have ten children, all brown-eyed, can you be certain that the man is homozygous? If the eleventh child has brown eyes, will that prove what the father's genotype is? View Answer		2005-09-14


	Is it possible for any other race (besides Caucasian) to have colored eyes without having Caucasian blood in their ancestry? View Answer		2005-09-14


	My 8 year old son has one green and one brown eye since he was born and we went to the eye doctor today for an exam and he said that he had heterochromia iridis. I asked if this was common and he said that if out of 10,000 clients that he would see in a year that maybe 3 would have this. I then asked what was the long term effect and he said that most can develop a tumor when they reach their late 30's-early 40's and the eye has to be removed. My question for you is how many that have this condition actually develop a tumor? I also didn't know that this was a disease; his pediatrician never spoke about it to us. View Answer		2005-09-14


	My child (age 6) has two different colored eyes - one blue and one green/gray. I know this can be associated with certain genetic disorders, but I understand that usually the difference in eye color is more dramatic (i.e. one blue and one brown.) My child was quite delayed in speech and spent a year in speech therapy prior to beginning kindergarten. Other than that, development had been normal. In your opinion, is this something that I should be exploring further or not? View Answer		2005-09-14


	What chromosome or chromosomes is nearsightedness on? Where can you find a pedigree chart of nearsightedness? View Answer		2005-09-14

Add to Favorites


Home	About	Site Map	Disclaimer	Terms of Use

Copyright © 2009 by Emory University. All rights reserved.