Article
Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8.
Investigative ophthalmology & visual science - 3 Feb 2025
Rateaux Maxence, Hadj-Rabia Smaïl, Barrois Rémi, Zambrowski Olivia, Michaud Vincent, Moreno-Artero Ester, Bremond-Gignac Dominique, Javerzat Sophie, Robert Matthieu P
Abstract excerpt
Purpose: Albinism is a genetic disorder characterized by a defect in melanin biosynthesis. Ophthalmological and dermatological impairments vary according to the patient genotype and are highly heterogenous. Recently, variants in the DCT gene were showed to be responsible for a new type of oculocutaneous albinism (OCA) named OCA8. We report the ophthalmological, electrophysiological, and dermatological...
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