A rare case of fundus albipunctatus with a novel RDH5 gene mutation

Résumé fourni par la source

Fundus albipunctatus (FA) is a rare, genetic retinal dystrophy that belongs to a heterogeneous group of genetically determined flecked retina syndromes. The presence of multiple retinal yellowish-white lesions of various sizes and configurations, without vascular or optic nerve abnormalities are characteristic features of these disorders. We report a case of fundus albipunctatus in an Indian girl child born out of consanguineous marriage with a novel homozygous nonsense variation in the RDH5 gene.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.