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مقاله
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Abstract
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Title:
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Gyrate atrophy of the choroid and retina: two cases in one Iranian family
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Author(s):
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Masoud Reza Manaviat, Samira Salimpour
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Presentation Type:
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Poster
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Subject:
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Posterior Segment and Uveitis
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Others:
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Presenting Author:
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Name:
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Samira Salimpoor
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Affiliation :(optional)
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Geriatric Ophthalmology Research Center, Shahid Sadoughi university of medical sciences, Yazd, Iran
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E mail:
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s_salimpour@yahoo.com
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Phone:
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03518113208
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Mobile:
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09132517030
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Purpose:
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To describe clinical and biochemical findings in an Iranian family
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Methods:
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Serum level of amino acids, including Ornithine, was analyzed by high performance liquid chromatography method in two siblings with gyrate atrophy of the choroid and retina.
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Results:
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Gyrate atrophy of the choroid and retina, an autosomal recessive inheritance disorder, at first described in 1888 with progressive visual loss and characteristic fundus features. The patient usually presents with progressive myopia and night blindness in first or second decade, then cataract and progressive visual field defects result in progressive visual loss at later period. Sharply well demarcated patches of chorioretinal atrophy that involve peripheral retina are characteristic for gyrate atrophy. These lesions with increasing age increase in size and number and develop to involve entire retina. In 1973 Hyperornithinemia recognized as a biomarker of this disorder that occurred due to deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) mapped on chromosome 10q26. It is a very rare disorder that only approximately 150 biochemically documented cases have been reported before 2001, with about one third being from Finland.
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Conclusion:
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We report biochemically confirmed Gyrate atrophy in two siblings in an Iranian family
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Attachment:
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7096.pptx
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