A case of CRB1-negative Coats-like retinitis pigmentosa

J AAPOS. 2013 Aug;17(4):414-6. doi: 10.1016/j.jaapos.2013.02.010. Epub 2013 Jul 18.

Abstract

Retinitis pigmentosa is a heterogeneous group of ocular diseases that causes progressive degeneration of the photoreceptor cells mainly affecting the rods of the peripheral retina. The association between retinitis pigmentosa and exudative retinopathy was first described in 1956 and has been called "Coats-like retinitis pigmentosa." Mutations in the Crumbs homolog 1 (CRB1) gene have been reported as a risk factor for developing Coats-like changes in patients with autosomal recessive retinitis pigmentosa. We report the case of a 15-year-old girl affected by CRB1 gene-negative retinitis pigmentosa and Coats-like exudative vasculopathy who was successfully treated with laser photocoagulation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Low-Level Light Therapy
  • Membrane Proteins / genetics*
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / therapy
  • Treatment Outcome

Substances

  • CRB1 protein, human
  • Eye Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins