Gyrate atrophy of the choroid and retina: a case report

Turk J Pediatr. 2011 Jan-Feb;53(1):94-6.

Abstract

Gyrate atrophy is a rare metabolic disease characterized by hyperornithinemia, typical retinal and choroidal lesions, high myopia with marked astigmatism, early cataract formation, and autosomal recessive inheritance pattern. In this paper, we describe a 12-year-old boy presenting with high myopia and gyrate fundus lesions, in addition to 10-times elevated serum ornithine level.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Fluorescein Angiography
  • Gyrate Atrophy / diagnosis
  • Gyrate Atrophy / pathology
  • Gyrate Atrophy / therapy
  • Humans
  • Male
  • Ornithine / blood
  • Retinal Diseases / blood
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / pathology
  • Retinal Diseases / therapy

Substances

  • Ornithine