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伴有玻璃体出血的脉络膜视网膜回旋性萎缩

Gyrate atrophy of choroid and retina complicated by vitreous hemorrhage.

作者信息

Takahashi O, Hayasaka S, Kiyosawa M, Mizuno K, Saito T, Tada K, Igarashi Y

出版信息

Jpn J Ophthalmol. 1985;29(2):170-6.

PMID:4046225
Abstract

We describe two patients with gyrate atrophy of the choroid and retina who suffered from vitreous hemorrhages in adolescence. The diagnosis of gyrate atrophy was confirmed biochemically and clinically; hyperornithinemia and a deficiency of ornithine ketoacid transaminase were confirmed biochemically. Typical fundus changes of scalloped chorioretinal atrophies with sharp margins, deteriorated dark adaptation, non-recordable electroretinogram, flat electrooculogram, and constricted visual fields were noted. We believe that the vitreous hemorrhage is an ocular complication in this disorder.

摘要

我们描述了两名患有脉络膜和视网膜回旋状萎缩的患者,他们在青春期出现了玻璃体积血。通过生化和临床检查确诊为回旋状萎缩;生化检查证实存在高鸟氨酸血症和鸟氨酸酮酸转氨酶缺乏。观察到典型的眼底改变,即边缘清晰的扇形脉络膜视网膜萎缩、暗适应恶化、视网膜电图无法记录、眼电图平坦以及视野缩小。我们认为玻璃体积血是这种疾病的一种眼部并发症。

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Gyrate atrophy of choroid and retina complicated by vitreous hemorrhage.伴有玻璃体出血的脉络膜视网膜回旋性萎缩
Jpn J Ophthalmol. 1985;29(2):170-6.
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Gyrate atrophy of the choroid and retina with hyperornithinemia HOGA.伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩(HOGA)
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引用本文的文献

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Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child.一名越南儿童出现伴有玻璃体出血并发症的脉络膜和视网膜回旋性萎缩。
Oman J Ophthalmol. 2025 Jun 24;18(2):208-211. doi: 10.4103/ojo.ojo_247_24. eCollection 2025 May-Aug.
2
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.一种新型鸟氨酸转氨酶剪接位点突变导致维生素B6反应性回旋状萎缩。
J Ophthalmic Vis Res. 2024 Mar 14;19(1):118-132. doi: 10.18502/jovr.v19i1.15446. eCollection 2024 Jan-Mar.
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OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
两名患有脉络膜视网膜回旋性萎缩的日本兄弟的OAT突变与临床特征
Doc Ophthalmol. 2014 Apr;128(2):137-48. doi: 10.1007/s10633-014-9426-1. Epub 2014 Jan 16.
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Gyrate atrophy of the choroid and retina: 15 Japanese patients.脉络膜和视网膜回旋状萎缩:15例日本患者
Br J Ophthalmol. 1986 Aug;70(8):612-4. doi: 10.1136/bjo.70.8.612.
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Vitreous, retinal and subretinal hemorrhages associated with von Willebrand's syndrome.与血管性血友病综合征相关的玻璃体、视网膜及视网膜下出血。
Graefes Arch Clin Exp Ophthalmol. 1992;230(5):496-7. doi: 10.1007/BF00175940.