Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

Gareth J McKay, Stephen Clarke, Jason A Davis, David A C Simpson, Giuliana Silvestri

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. The purpose of this study was to describe the phenotype of a family with PPCRA, determine the mode of inheritance, and identify the causal mutation.
Original languageEnglish
Pages (from-to)322-8
Number of pages7
JournalInvestigative ophthalmology & visual science
Volume46
Issue number1
DOIs
Publication statusPublished - Jan 2005

Keywords

  • Adult
  • Amino Acid Sequence
  • Atrophy
  • DNA Mutational Analysis
  • Eye Proteins
  • Female
  • Gene Amplification
  • Genes, Dominant
  • Humans
  • Male
  • Membrane Proteins
  • Middle Aged
  • Models, Molecular
  • Molecular Sequence Data
  • Molecular Structure
  • Nerve Tissue Proteins
  • Pedigree
  • Phenotype
  • Point Mutation
  • Polymerase Chain Reaction
  • Retinal Degeneration
  • Retinal Vein
  • Tomography, Optical Coherence

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