Mays El-dairi
What is the ERG consistent with? Is it LCA? ERG should be normal in albinism
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Barbara Käsmann-Kellner
if you can perform Albino-VEP, do this. What does the child look like? if she origins from your country, she might be a bit paler than the family in albinism, not necessarily white.
Is there delayed visual maturation DVM? this is a very frequent symptom in albinism, more than in other congenital visual impairments.
Are the parents related? any positive FH for nystagmus, Low vision?
Management:
- prescribe glasses, 20% and 80% tint for inside/outside respectively
- affirm parents that visual abilities will definitely improve (especially if the child has DVM)
- once the child starts fixating, start alternating patching of 30mins per day per eye - this helps visual development of each eye and may reduce the (high) risk of developing strabismus
- genetic analysis can be done, but is less reliable than a good clinical analysis, as many albinists (approx. 25%) do not show alterations in the up to now known genes. In addition, genetic analysis does not help to foresee the possible visual development.
- If available in your country, start the child with early visual intervention programm.
- Alternatively, give the patients the following link which includes many informations for early visual intervention (in many languages): www.lea-test.fi
I attach some publications.
Greetings!
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