Article
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
Documenta ophthalmologica. Advances in ophthalmology - 1 Dec 2023
Sylla Mohamed M, Kolesinkova Masha, da Costa Bruna Lopes, Maumenee Irene H, Tsang Stephen H, Quinn Peter M J
Abstract excerpt
INTRODUCTION: Leber Congenital Amaurosis (LCA) is an inherited retinal disease that presents in infancy with severely decreased vision, nystagmus, and extinguished electroretinography findings. LCA8 is linked to variants in the Crumbs homolog 1 (CRB1) gene. CASE DESCRIPTION: We report a novel CRB1 variant in a 14-year-old male presenting with nystagmus, worsening vision, and inability to fixate on toys in his...
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