Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy

This case illustrates the novel co-occurrence of two distinct genetic disorders: CEP290-associated LCA10 and GLI3-associated isolated polydactyly. The initial diagnostic challenge underscores the complexity of pediatric inherited retinal diseases and highlights several critical lessons. The importance of longitudinal phenotyping, the necessity of a detailed family history, and the superior diagnostic utility of comprehensive genetic testing like whole-exome sequencing over targeted panels in complex presentations. Accurate differentiation between LCA and syndromic ciliopathies like BBS is crucial for prognostic counseling and management, as LCA10 carries a more favorable systemic prognosis and is now a target for emerging gene therapies.