Gyrate atrophy of the choroid and retina

Hasanoglu A., Biberoglu G., Tumer L.

TURKISH JOURNAL OF PEDIATRICS, vol.38, no.2, pp.253-256, 1996 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 2
  • Publication Date: 1996
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.253-256
  • Keywords: gyrate atrophy, hyperornithinemia
  • Gazi University Affiliated: No

Abstract

Gyrate atrophy of the choroid and retina is characterized by autosomal recessive inheritance, progressive chorioretinal atrophy beginning in late childhood, and hyperornithinemia with ornithinuria caused by deficient ornithine aminotransferase activity. In this paper, four patients with gyrate atrophy are described. All patients had visual impairment, mental retardation, hyperornithinemia, hypolysinemia, ornithinuria and lysinuria. The first case had hypermetropic astigmatism in contrast to other reported gyrate atrophies.