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, cilt.53, sa.1, ss.94-96, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 1
  • Basım Tarihi: 2011
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.94-96
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.