A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
Mohamed M SyllaMasha KolesinkovaBruna Lopes da CostaIrene H MaumeneeStephen H TsangPeter M J QuinnPublished in: Documenta ophthalmologica. Advances in ophthalmology (2023)
This case presentation is consistent with LCA8, suggesting pathogenicity of this novel variant and expanding our knowledge of disease-causing CRB1 variants.