Literature DB >> 21534348

Gyrate atrophy of the choroid and retina: a case report.

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.

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Year:  2011        PMID: 21534348

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN: 0041-4301            Impact factor:   0.552


  1 in total

1.  Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

Authors:  Réjean M Guerriero; Archana A Patel; Brian Walsh; Fiona M Baumer; Ankoor S Shah; Jurriaan M Peters; Lance H Rodan; Pankaj B Agrawal; Phillip L Pearl; Masanori Takeoka
Journal:  Pediatr Neurol       Date:  2017-06-03       Impact factor: 3.372

  1 in total

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