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脉络膜和视网膜的回旋状萎缩

Gyrate atrophy of the choroid and retina.

作者信息

Hasanoğlu A, Biberoğlu G, Tümer L

机构信息

Department of Pediatrics, Gazi University Faculty of Medicine, Ankara.

出版信息

Turk J Pediatr. 1996 Apr-Jun;38(2):253-6.

PMID:8701494
Abstract

Gyrate atrophy of the choroid and retina is characterized by autosomal recessive inheritance, progressive chorioretinal atrophy beginning in late childhood, and hyperornithinemia with ornithinuria caused by deficient ornithine aminotransferase activity. In this paper, four patients with gyrate atrophy are described. All patients had visual impairment, mental retardation, hyperornithinemia, hypolysinemia, ornithinuria and lysinuria. The first case had hypermetropic astigmatism in contrast to other reported gyrate atrophies. These are the first reported cases from Turkey, but gyrate atrophy may not be rare in Turkey since the frequency of some other metabolic disorders has also been reported to be high. It is suggested that gyrate atrophy must be considered in all patients with chorioretinal atrophy.

摘要

脉络膜视网膜回旋性萎缩的特征为常染色体隐性遗传、始于儿童晚期的进行性脉络膜视网膜萎缩,以及因鸟氨酸转氨酶活性缺乏导致的高鸟氨酸血症伴鸟氨酸尿症。本文描述了4例脉络膜视网膜回旋性萎缩患者。所有患者均有视力损害、智力发育迟缓、高鸟氨酸血症、低赖氨酸血症、鸟氨酸尿症和赖氨酸尿症。与其他报道的脉络膜视网膜回旋性萎缩病例不同,首例患者有远视散光。这些是来自土耳其的首例报道病例,但鉴于其他一些代谢紊乱的发生率据报道也很高,脉络膜视网膜回旋性萎缩在土耳其可能并不罕见。建议所有脉络膜视网膜萎缩患者都应考虑患有脉络膜视网膜回旋性萎缩。

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