Gyrate atrophy of the choroid and retina: a case report


Buyuktortop N., Alp M. N., Sivri S., COŞKUN T., Kural G.

TURKISH JOURNAL OF PEDIATRICS, vol.53, no.1, pp.94-96, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 1
  • Publication Date: 2011
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.94-96
  • Hacettepe University Affiliated: Yes

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.