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albinism

hello and hi!

My 4 month old son has been diagnosed with Albinism, we are yet waiting for an appointment with eye specialist as to confirm the initial findings, its been over a month since when they confirmed this to us. We are confused as he is doing fine with his hair colour, eye lash colour and skin colour. His eyes are of normal brown colour and is responding alot better than he used to . He still cannot focus very easily but whenever he does he gives one smile and his eyes do not wander around that much. He has also been diagnosed with Metabolic disorder (MCAAD), but he is doing fine on that front and is taking Riboflavin 50 mg. We are confused as to whether he has albinism or not in the first place also if he has then which type. He might have it as he does squint a bit in sunlight not alot though. Is it possible that children develop Melanine (pigment responsible for skin colour) with time and their eye disorders go away.
2 Responses
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850303 tn?1269118207
Dear Dr. Kutryb ,
Your simple comment is a good summary for the case . Thank you for that strategy.

Prof. Sinno treated carefully my daughter and now she is in her 2nd Grade at one of the best schools in Lebanon. She 's now 7 years old  and asking many questions about her ocular albinism case . Prof. Sinno retired and I can't find a doctor at the current time able to start a genetic research here in Lebanon because no one takes care of such cases or they have different plans for more advanced reseach . I'll try to upload some of her photos to this web where you can see her and if you know a fellow member of your community in Lebanon , qualified to discuss the case ,please tell me .
Helpful - 0
284078 tn?1282616698
MEDICAL PROFESSIONAL
If he truly has albinism or ocular albinism, it will not improve on it's own.  Someday, genetic treatments may be available but I cannot say how many years down the road.  Ocular abinism usually causes the patient to have nystagmus where the eyes flutter or twitch back and forth,usually side to side.  This is called nystagmus and these type of patients are certainly not blind but are visually handicapped.  None of us at present, know what exactly your child has, so I was just listing a few things about true albinism.

MJK MD
Helpful - 0

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