Gyrate atrophy associated with unusual clinical and laboratory findings in two siblings
Annals of Ophthalmology - Glaucoma, cilt.29, sa.3, ss.193-196, 1997 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 29 Sayı: 3
- Basım Tarihi: 1997
- Dergi Adı: Annals of Ophthalmology - Glaucoma
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.193-196
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Gyrate atrophy is an autosomal recessive chorioretinal dystrophy caused by a deficiency of the enzyme ornithine aminotransferase. This article reports on two siblings with gyrate atrophy who presented with a severe clinical prognosis despite mildly elevated levels of plasma and urinary ornithine. One of the patients also had bilateral anterior polar cataracts, which has not been reported as a classic feature of the disease. The severe prognosis, despite mildly elevated ornithine levels, suggests that the lowering of ornithine levels by dietary protein restriction is not likely to be effective in preventing disease progression.