Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

被引：61

作者：

Chang, Susie ^{[1
]}

Vaccarella, Leah ^{[1
]}

Olatunji, Sunday ^{[1
]}

Cebulla, Colleen ^{[1
]}

Christoforidis, John ^{[1
]}

机构：

[1] Ohio State Univ, Coll Med, Havener Eye Inst, Retina Div, Columbus, OH 43212 USA

来源：

CURRENT GENOMICS | 2011年 / 12卷 / 04期

关键词：

Retinitis pigmentosa; heterogeneity; clinical manifestation; phenotypic variation; genotype-phenotype correlation; genetic testing; LEBER CONGENITAL AMAUROSIS; OPTICAL COHERENCE TOMOGRAPHY; CYSTOID MACULAR EDEMA; PERIPHERIN-RDS GENE; RETINAL DEGENERATION; RHODOPSIN MUTATIONS; CLINICAL EXPRESSION; DARK-ADAPTATION; DOMINANT; PROTEIN;

D O I：

10.2174/138920211795860116

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：267 / 275

页数：9

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