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脉络膜和视网膜正常鸟氨酸血症性回旋状萎缩的鉴别诊断。

Differential diagnosis of normoornithinaemic gyrate atrophy of the choroid and retina.

作者信息

Bargum R

出版信息

Acta Ophthalmol (Copenh). 1986 Aug;64(4):369-73. doi: 10.1111/j.1755-3768.1986.tb06937.x.

DOI:10.1111/j.1755-3768.1986.tb06937.x
PMID:3776498
Abstract

A case of localized chorioretinal atrophy resembling gyrate atrophy of the choroid and retina is presented. Plasma ornithine concentration was normal and the clinical course characterized by late onset of relatively mild symptoms. The differential diagnoses are discussed and the term normoornithinaemic gyrate atrophy of the choroid and retina is suggested for similar variant cases.

摘要

本文报告一例类似脉络膜视网膜回旋状萎缩的局限性脉络膜视网膜萎缩病例。血浆鸟氨酸浓度正常，临床病程表现为相对较轻症状的迟发性。文中讨论了鉴别诊断，并建议将类似变异病例命名为正常鸟氨酸血症性脉络膜视网膜回旋状萎缩。

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Differential diagnosis of normoornithinaemic gyrate atrophy of the choroid and retina.脉络膜和视网膜正常鸟氨酸血症性回旋状萎缩的鉴别诊断。
Acta Ophthalmol (Copenh). 1986 Aug;64(4):369-73. doi: 10.1111/j.1755-3768.1986.tb06937.x.
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Gyrate atrophy of the choroid and retina. Early findings.脉络膜和视网膜的回旋状萎缩。早期发现。
Ophthalmology. 1985 Mar;92(3):394-401. doi: 10.1016/s0161-6420(85)34022-8.
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Gyrate atrophy of the choroid and retina. The ocular disease progresses in juvenile patients despite normal or near normal plasma ornithine concentration.脉络膜和视网膜的回旋状萎缩。尽管血浆鸟氨酸浓度正常或接近正常，但该眼部疾病在青少年患者中仍会进展。
Ophthalmology. 1987 Nov;94(11):1428-33.
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Am J Ophthalmol. 2005 Jul;140(1):147-9. doi: 10.1016/j.ajo.2004.12.083.
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Differential diagnosis of diffuse choroidal atrophies. Diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina.弥漫性脉络膜萎缩的鉴别诊断。弥漫性脉络膜毛细血管萎缩、无脉络膜症以及脉络膜和视网膜回旋状萎缩。
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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
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[Gyrate atrophy of choroid and retina, and hyperornithinemia].[脉络膜和视网膜回旋状萎缩以及高鸟氨酸血症]
Harefuah. 2000 Jan 16;138(2):101-5, 175.
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Gyrate Atrophy of the Choroid and Retina: A Review.脉络膜和视网膜回旋性萎缩：综述
Eur J Ophthalmol. 2022 May;32(3):1314-1323. doi: 10.1177/11206721211067333. Epub 2021 Dec 13.
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Clinical trials of vitamin B6 and proline supplementation for gyrate atrophy of the choroid and retina.维生素B6和脯氨酸补充剂用于治疗脉络膜和视网膜回旋状萎缩的临床试验。
Br J Ophthalmol. 1985 Apr;69(4):283-90. doi: 10.1136/bjo.69.4.283.
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Gyrate atrophy of the choroid and retina.脉络膜和视网膜的回旋状萎缩
Ophthalmologica. 1979;178(6):311-20. doi: 10.1159/000308842.

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Int Ophthalmol. 2024 Dec 7;45(1):1. doi: 10.1007/s10792-024-03260-0.
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Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine.血浆鸟氨酸正常但血浆牛磺酸水平低的回旋状萎缩样表型。
GMS Ophthalmol Cases. 2020 Feb 27;10:Doc04. doi: 10.3205/oc000131. eCollection 2020.