aimTo analyze the pathogenicity and clinical features of patients in a consanguineous cone-rod dystrophy (CRD) family due to heterozygous variants in the

methodsWhole exome sequencing was used to screen for pathogenic genes and candidate pathogenic variants were obtained by bioinformatics analysis. Sanger sequencing was used for validation and familial co-segregation analysis to determine pathogenic variants. Pymol software was applied to produce a 3D structure image of the protein to analyze the structural and functional alterations of the protein. The pathogenicity of genetic variants was evaluated according to ACMG guidelines.

resultsThe chief clinical symptoms of this proband included obvious visual impairment, protanopia and deuteranopia, peripheral punctate pigment, arteriolar attenuation, structural and functional abnormalities revealed by optical coherence tomography (OCT) and electroretinography (ERG) including thinning of the outer retinal layer, a discontinuous external limiting membrane (ELM) and ellipsoid zone (EZ), granular hyperreflective projections between the retinal pigment epithelium and the interdigitation zone, severe attenuation of photopic responses with mild reduced scotopic responses. Whole-exome sequencing revealed that the proband carried a heterozygous variant of the

conclusionThe