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

@article{McKay2005PigmentedPC,
  title={Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.},
  author={Gareth J. McKay and Stephen Clarke and Jason A. Davis and David A Simpson and Giuliana Silvestri},
  journal={Investigative ophthalmology & visual science},
  year={2005},
  volume={46 1},
  pages={322-8}
}
PURPOSE 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. METHODS Ophthalmic examination was performed on seven family members and serially detailed in the proband over a 3-year period. Blood samples were collected and DNA extracted. All 12… CONTINUE READING
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