脉络膜
色素性视网膜炎
鸟氨酸
视网膜
医学
眼科
脉络膜缺失
鸟氨酸转氨酶
视力
萎缩
精氨酸
病理
视网膜
生物
神经科学
遗传学
氨基酸
作者
Ayman G. Elnahry,Gehad A. Elnahry
标识
DOI:10.1177/11206721211067333
摘要
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive genetic condition characterized by elevation of the plasma level of the amino acid ornithine due to deficiency of the enzyme ornithine ketoacid aminotransferase. Accumulation of ornithine occurs in various body tissues but leads primarily to characteristic ophthalmic manifestations including myopia, cataract, progressive chorioretinal atrophy, and macular changes. Patients usually present with night blindness that starts in the first decade of life followed by visual field constriction and eventually diminution of the central visual acuity and blindness. The condition has been reported worldwide and its differential diagnosis is broad and includes choroideremia and retinitis pigmentosa. Treatment currently depends on life-long dietary modifications including restriction of the amino acid arginine in diet. This article describes in detail the pathogenesis, clinical features, multimodal imaging findings, and treatment options for GA of the choroid and retina and its complications.
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