Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

Overview

Journal Curr Genomics

Publisher Bentham Science Publishers

Date 2011 Dec 2

PMID 22131872

Citations 38

Authors

Susie Chang

Leah Vaccarella

Sunday Olatunji

Colleen Cebulla

John Christoforidis

Affiliations

Soon will be listed here.

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.

Citing Articles

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