Deutman A F, Sengers R C, Trybels J M
Int Ophthalmol. 1978 Sep;1(1):49-56. doi: 10.1007/BF00133277.
A 10 year old white girl is presented with gyrate atrophy of the choroid and retina (atrofia gyrata). She also showed reticular pigmentations at the level of the retinal pigment epithelium temporal to both maculas. A generalized hyperornithinaemia was demonstrated in this patient and cultured fibroblasts established the underlying ornithine-keto-acid-transaminase (OKT) deficiency for the first time. Pharmacologic doses of vitamin B6 nor restriction of dietary protein resulted in a significant decrease of the serum ornithine concentration. It is probable that hyperornithinaemia in itself is not the cause of the gyrate atrophy.
一名10岁白人女孩被诊断患有脉络膜和视网膜回旋性萎缩（萎缩性回旋）。她还在两个黄斑颞侧的视网膜色素上皮水平出现网状色素沉着。该患者被证实存在全身性高鸟氨酸血症，培养的成纤维细胞首次确定了潜在的鸟氨酸 - 酮酸转氨酶（OKT）缺乏症。药理剂量的维生素B6或限制饮食中的蛋白质均未导致血清鸟氨酸浓度显著降低。高鸟氨酸血症本身可能不是回旋性萎缩的病因。
