Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability

Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP.

Keywords: Retinitis pigmentosa; clinical manifestation; genetic testing.; genotype-phenotype correlation; heterogeneity; phenotypic variation.