Kaiser-Kupfer M I, Valle D, Bron A J
Am J Ophthalmol. 1980 Feb;89(2):219-22. doi: 10.1016/0002-9394(80)90114-2.
Two patients had milder variants of the usual form of gyrate atrophy. Although the appearance of the chorioretinal degeneration was identical, the progression of the clinical signs and symptoms were slower with night blindness, cataracts, and decreased vision occurring at an older age. Additionally, the level of hyperornithinemia, although still increased above normal, was lower than that usually found in such patients (between 448 and 676 microM). Additionally, one of our patients responded to high dosage vitamin B6 with a 27% reduction in plasma ornithine. The difference in the quantitation of the increase in plasma ornithine, the difference in responsiveness to vitamin B6, and the difference in the clinical consequences of this underlying biochemical abnormality, indicated a variant form of gyrate atrophy, suggesting the presence of genetic heterogeneity.
两名患者患有通常形式的回旋状萎缩的较轻变体。尽管脉络膜视网膜变性的外观相同，但临床体征和症状的进展较慢，夜盲、白内障和视力下降在较年长时出现。此外，高鸟氨酸血症水平虽然仍高于正常，但低于此类患者通常所见水平（448至676微摩尔之间）。此外，我们的一名患者对高剂量维生素B6有反应，血浆鸟氨酸降低了27%。血浆鸟氨酸增加量的定量差异、对维生素B6反应性的差异以及这种潜在生化异常的临床后果差异，表明存在回旋状萎缩的变体形式，提示存在遗传异质性。
