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相似文献

1
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.
2
Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: in vivo and in vitro response to vitamin B6.与脉络膜和视网膜回旋状萎缩相关的高鸟氨酸血症:对维生素B6的体内和体外反应
J Inherit Metab Dis. 1981;4(2):61-2. doi: 10.1007/BF02263591.
3
The natural history of gyrate atrophy of the choroid and retina.脉络膜和视网膜回旋状萎缩的自然病史。
Ophthalmology. 1981 Apr;88(4):292-301. doi: 10.1016/s0161-6420(81)35031-3.
4
Bilateral keratoconus in a patient with gyrate atrophy and hyperornithinemia.一名患有回旋状萎缩和高鸟氨酸血症的患者出现双侧圆锥角膜。
Am J Ophthalmol. 1983 May;95(5):705-6. doi: 10.1016/0002-9394(83)90395-1.
5
Reduction of hyperornithinemia with a low protein, low arginine diet and pyridoxine in patients with a deficiency of ornithine-ketoacid transaminase (OKT) activity and gyrate atrophy of the choroid and retina.采用低蛋白、低精氨酸饮食及吡哆醇治疗鸟氨酸-酮酸转氨酶(OKT)活性缺乏且伴有脉络膜和视网膜回旋状萎缩的患者,以降低高鸟氨酸血症。
Clin Chim Acta. 1981 Jul 1;113(3):243-51. doi: 10.1016/0009-8981(81)90278-3.
6
Clinical and biochemical heterogeneity in gyrate atrophy.回旋状萎缩的临床和生化异质性
Am J Ophthalmol. 1980 Feb;89(2):219-22. doi: 10.1016/0002-9394(80)90114-2.
7
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)
Birth Defects Orig Artic Ser. 1976;12(3):373-84.
8
Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle.伴有高鸟氨酸血症的脉络膜和视网膜回旋状萎缩:肌肉中的管状聚集物和2型纤维萎缩。
Neurology. 1979 Jul;29(7):996-1005. doi: 10.1212/wnl.29.7.996.
9
Gyrate atrophy of choroid associated with hyperornithinaemia: report of the first case in Italy.与高鸟氨酸血症相关的脉络膜回旋状萎缩:意大利首例病例报告。
J Pediatr Ophthalmol Strabismus. 1979 Mar-Apr;16(2):133-5. doi: 10.3928/0191-3913-19790301-12.
10
L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.一名患有高鸟氨酸血症及脉络膜和视网膜回旋状萎缩的患者的培养成纤维细胞中L-鸟氨酸-酮酸转氨酶缺乏症
Clin Chim Acta. 1977 Sep 1;79(2):371-7. doi: 10.1016/0009-8981(77)90431-4.

引用本文的文献

1
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.
2
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.回旋状萎缩:一名在生命最初39年未进行精氨酸限制饮食的女性的临床和基因研究结果以及一个新的OAT基因突变报告
Doc Ophthalmol. 2012 Aug;125(1):81-9. doi: 10.1007/s10633-012-9335-0. Epub 2012 Jun 7.

本文引用的文献

1
Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.伴有高鸟氨酸血症的回旋状萎缩:对维生素B6的不同反应类型
Br J Ophthalmol. 1981 Jul;65(7):478-83. doi: 10.1136/bjo.65.7.478.
2
The natural history of gyrate atrophy of the choroid and retina.脉络膜和视网膜回旋状萎缩的自然病史。
Ophthalmology. 1981 Apr;88(4):292-301. doi: 10.1016/s0161-6420(81)35031-3.
3
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.与高鸟氨酸血症相关的脉络膜和视网膜回旋状萎缩。
Br J Ophthalmol. 1974 Jan;58(1):3-23. doi: 10.1136/bjo.58.1.3.
4
Raised plasma-ornithine and gyrate atrophy of the choroid and retina.血浆鸟氨酸升高与脉络膜和视网膜的回旋状萎缩。
Lancet. 1973 May 12;1(7811):1031-3. doi: 10.1016/s0140-6736(73)90667-3.
5
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.
6
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。
Retina. 1985 Winter-Spring;5(1):30-7.
7
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.
8
[The long-term observation of two brothers of gyrate atrophy of the choroid and retina with hyperornithinaemia (author's transl)].高鸟氨酸血症性脉络膜视网膜回旋性萎缩两兄弟的长期观察(作者译)
Nippon Ganka Gakkai Zasshi. 1977 Apr;81(4):310-22.
9
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.

脉络膜和视网膜回旋状萎缩:15例日本患者

Gyrate atrophy of the choroid and retina: 15 Japanese patients.

作者信息

Hayasaka S, Shiono T, Mizuno K, Sasayama C, Akiya S, Tanaka Y, Hayakawa M, Miyake Y, Ohba N

出版信息

Br J Ophthalmol. 1986 Aug;70(8):612-4. doi: 10.1136/bjo.70.8.612.

DOI:10.1136/bjo.70.8.612
PMID:3741829
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1040783/
Abstract

We examined 15 Japanese patients who had gyrate atrophy of the choroid and retina with hyperornithinaemia. Their visual acuities fell to 0.2 or worse in the second or third decade of life. Myopia developed late in the first decade, and the refractions decreased to -10 or -15 dioptres at age 20. Tunnel vision developed at approximately age 20. Our results suggested that the visual functions of Japanese patients were worse in the third decade or later than similarly affected Finnish patients.

摘要

我们检查了15名患有鸟氨酸血症伴脉络膜和视网膜回旋性萎缩的日本患者。他们的视力在生命的第二个或第三个十年降至0.2或更差。近视在第一个十年后期出现,20岁时屈光度降至-10或-15。管状视野大约在20岁时出现。我们的结果表明,日本患者在第三个十年及以后的视觉功能比受类似影响的芬兰患者更差。