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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Suggest Management For Congenital Retinal Dystrophy

my granddaughter has been diagnosed with congenital retinal dystrophy from X-linked gene she is six and is almost totally legally blind and they tell us it s progressive to total blindness very quickly- her retina s are wavy and very thin in the valleys they tell us there is no cure but we can go to genetic counseling ?
Tue, 8 Dec 2015
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Ophthalmologist 's  Response
Hello, I am Dr. Richa, I am a pediatric opthalmologist. I understand your concern. congenital retinal dystrophy are of many types and behave variably. It is not possible to name which one your grand daughter is suffering from without having a look at her retina but as per your description, it seems to be progressive dystrophy. Most of the dystrophies are not treatable.Till now, genetic treatment / gene replacement therapy has not been successful. Other treatment procedure being tried for treatment of retinal dystrophies is bionic eyes but still in very primitive stage. I understand your worry, but being a doctor, We need to focus on child's future and further development in form integrated education and low vision aids by which she can use her remaining vision to maximum and lead her life independently. At the same time, we should be hopeful for possible development in future for this disease. Please avoid marriages in close relationships ( consanguinous) to avoid other kids in family to inherit . Future pregnancies in mother can be identified by genetic tests. Take care
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Ophthalmologist Dr. Richa Sharma's  Response
Hi, I m Dr. Richa. I understand your concern. retinal dystrophies present variably according to there type and similarly their progression. Although , a retina examination at hospital will provide better details, but I would try to help you regarding your query. I understand that by genetic counselling you want to know about any possibility of treatment through genes/ gene therapy. Unfortunately, gene therapy has not proven to have any positive results , in fact the studies are still at primitive stage. You can go for GENETIC COUNSELLING so that further siblings do not get affected as it can be diagnosed at an earlier stage of pregnancy through certain tests.
Adding to it, Your kid needs to be given special care in terms of education ( school for visually challenged/ occupational therapy) so that she can live her life independently.
Scientists are working in field of bionic eye to help such patients which gives us a ray of hope, may be in future , we'll get some fruitful results.
Thanks, Take care
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Suggest Management For Congenital Retinal Dystrophy

Hello, I am Dr. Richa, I am a pediatric opthalmologist. I understand your concern. congenital retinal dystrophy are of many types and behave variably. It is not possible to name which one your grand daughter is suffering from without having a look at her retina but as per your description, it seems to be progressive dystrophy. Most of the dystrophies are not treatable.Till now, genetic treatment / gene replacement therapy has not been successful. Other treatment procedure being tried for treatment of retinal dystrophies is bionic eyes but still in very primitive stage. I understand your worry, but being a doctor, We need to focus on child s future and further development in form integrated education and low vision aids by which she can use her remaining vision to maximum and lead her life independently. At the same time, we should be hopeful for possible development in future for this disease. Please avoid marriages in close relationships ( consanguinous) to avoid other kids in family to inherit . Future pregnancies in mother can be identified by genetic tests. Take care