title: 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.
authors: Retina Division, Havener Eye Institute, The Ohio State University College of Medicine, Columbus, Ohio, USA.
authors: Susie
authors: S
authors: Chang
authors: Leah
authors: L
authors: Vaccarella
authors: Sunday
authors: S
authors: Olatunji
authors: Colleen
authors: C
authors: Cebulla
authors: John
authors: J
authors: Christoforidis