Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

Title: Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

Volume: 12 Issue: 4

Author(s): Susie Chang, Leah Vaccarella, Sunday Olatunji, Colleen Cebulla and John Christoforidis

Affiliation:

Keywords: Electroretinography, Optical Coherence Tomography, Electro-Oculography, heterogeneity, Visual Acuity, genetic testing, genotype-phenotype correlation, phenotypic variation, clinical manifestation, heterogeneity, Retinitis pigmentosa

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.

Cite this article as:

Chang Susie, Vaccarella Leah, Olatunji Sunday, Cebulla Colleen and Christoforidis John, Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability, Current Genomics 2011; 12 (4) . https://dx.doi.org/10.2174/138920211795860116