Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

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

Journal Name: Current Genomics

Volume 12 , Issue 4 , 2011


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

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Article Details

Year: 2011
Page: [267 - 275]
Pages: 9
DOI: 10.2174/138920211795860116
Price: $58

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