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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 267-275 |
| Number of pages | 9 |
| Journal | Current Genomics |
| Volume | 12 |
| Issue number | 4 |
| DOIs | |
| State | Published - 2011 |
Keywords
- Clinical manifestation
- Genetic testing
- Genotype-phenotype correlation
- Heterogeneity
- Phenotypic variation
- Retinitis pigmentosa
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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