Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

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,...

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Bibliographic Details
Published in:Current genomics 2011-06, Vol.12 (4), p.267-275
Main Authors: Chang, Susie, Vaccarella, Leah, Olatunji, Sunday, Cebulla, Colleen, Christoforidis, John
Format: Article
Language:English
Subjects:
Age
Retina
Retinitis pigmentosa
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Summary: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.
ISSN:1389-2029
1875-5488
DOI:10.2174/138920211795860116