Diagnostic challenges in retinitis pigmentosa: Genotypic multiplicity and phenotypic variability

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

Research output: Contribution to journalArticle

33 Scopus citations

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 languageEnglish (US)
Pages (from-to)267-275
Number of pages9
JournalCurrent Genomics
Volume12
Issue number4
DOIs
StatePublished - 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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