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Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

Year: 2011

Type: article

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

Source: Current Genomics

DOI: 10.2174/138920211795860116

Authors: Susie Chang, Leah Vaccarella, Sunday Olatunji, Colleen Cebulla, John Christoforidis

Institutions: The Ohio State University Wexner Medical Center, The Ohio State University

Language: English

Topic: Retinal Development and Disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Center for Research Resources