| Literature DB >> 21534348 |
Nesrin Büyüktortop1, Mehmet Numan Alp, Serap Sivri, Turgay Coşkun, Gülcan Kural.
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.Entities:
Mesh:
Substances:
Year: 2011 PMID: 21534348
Source DB: PubMed Journal: Turk J Pediatr ISSN: 0041-4301 Impact factor: 0.552