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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Pregnant, Having Macular Degeneration, Macular Dystrophy. Will Baby Also Have This Problem? Any Cure?

Dear Doctor, I am Suresh from Dubai [united Arab Emirates] ,presently in india for vacation. I am having some queries regarding Macular degeneration as well as macular dystrophy . doctor can you clarify my doughts which hospital or doctor I have to meet for the following problem . If you guide us we are ready to come India any time. Doctor we require your help regarding our problem . my wife is 2 months pregnant. she is having some eye sight problem ie. (Macular degeneration problem for her eyes) [her parents are 1st generation cousins because of that she got this problem. in her family only she is having that problem and no body is having in there family] , we shown in LV eye hospital Hyderabad India, they said there is no cure for that disease or problem.. I want to know whether this problem will come to baby also.(as she is pregnant). Can u guide me whether there is any tests where we can check whether baby is having any problem like her mother(with genetic test or any other tests).. Note : We are not Cousins or Relatives Medical Report Says : [ Old Report – almost 3 yrs back ] I have seen Ms smitha, a 26 yr old female , as she came with complaints of decrease in both eyes since child hood along squinting of the eyes. On Examination her visual acuity was counting fingers at 2 meters in both eyes with eccentric viewing. Cycloflash revealed -4.50 Ds with -2.0 Dc at 10 degrees in the right Eye and -3.5 Ds with -2.0 Dc at 170 degrees in the left eye. Intraocular pressure was 12 and 14 mmHg in the right and left eye respectively . ocular motility showed exotropic appearance of the eyes. Anterior segment evaluation was normal in both eyes. Dilated fundus examination showed macular degeneration in both eyes With normal discs. Based on the above evaluation this patient was diagnosed to have macular dystrophy in both eyes with eccentric viewing.--The above one is the medical report given by the eye hospital. Please advise me about my next step.. Waiting for your reply, Email id’s: YYYY@YYYY Thanks & Regards, Chvsuresh 0000
Sat, 23 Feb 2013
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Ophthalmologist,  's  Response
Hi Suresh. Based on the material posted by you from your wife's reports, I have to assume your wife has one kind of Macular dystrophy. Degeneration is generally referred to similar changes but due to age that occur in the macular area of the eye. There are a around 3 broad types of Macular dystrophy: autosomal dominant which means it manifests in more than one member of the family and an offspring has a 50% chance of getting the disease, autosomal recessive which shows in a patient who has normal parents but probably are related and X linked which has females who carry the diseased gene but is seen only in males. If your wife started having vision loss in her teens, her parents or anyone else are not affected she probably has the recessive kind of dystrophy. This means that if you are not related and definitely normal without macular disease, the chance of passing the disease to your child is non existent. That means your child will, in all probability be normal. however, no genetic testing has been done on your wife and the report does not clarify what kind of Dystrophy she has. History leans strongly towards the recessive kind but if you like you may try genetic testing available in Hyderabad. There is no treatment or prevention possible for this disease as yet though there are promising genetic trials underway to isolate the mutant gene and treatment perhaps cannot be far behind.
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Pregnant, Having Macular Degeneration, Macular Dystrophy. Will Baby Also Have This Problem? Any Cure?

Hi Suresh. Based on the material posted by you from your wife s reports, I have to assume your wife has one kind of Macular dystrophy. Degeneration is generally referred to similar changes but due to age that occur in the macular area of the eye. There are a around 3 broad types of Macular dystrophy: autosomal dominant which means it manifests in more than one member of the family and an offspring has a 50% chance of getting the disease, autosomal recessive which shows in a patient who has normal parents but probably are related and X linked which has females who carry the diseased gene but is seen only in males. If your wife started having vision loss in her teens, her parents or anyone else are not affected she probably has the recessive kind of dystrophy. This means that if you are not related and definitely normal without macular disease, the chance of passing the disease to your child is non existent. That means your child will, in all probability be normal. however, no genetic testing has been done on your wife and the report does not clarify what kind of Dystrophy she has. History leans strongly towards the recessive kind but if you like you may try genetic testing available in Hyderabad. There is no treatment or prevention possible for this disease as yet though there are promising genetic trials underway to isolate the mutant gene and treatment perhaps cannot be far behind.