Gyrate atrophy of the choroid and retina

Hasanoglu A., Biberoglu G., Tumer L.

TURKISH JOURNAL OF PEDIATRICS, cilt.38, sa.2, ss.253-256, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 2
  • Basım Tarihi: 1996
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.253-256
  • Anahtar Kelimeler: gyrate atrophy, hyperornithinemia
  • Gazi Üniversitesi Adresli: Hayır

Özet

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.