GYRATE ATROPHY OF THE CHOROID AND RETINA AND OTHER RETINAL DEGENERATIONS

对脉络膜和视网膜回缩的患者进行检查 以系统地确认诊断。受影响的皮肤成纤维细胞 患者和家属在组织培养中成长，并进行检测 鸟氨酸转氨酶活性。对结果进行评估以确定 与存在纯合性或杂合性的相关性 疾病特征。每个患者都接受了吡哆醇的试验，以了解 可否降低鸟氨酸的血清浓度；若然， 病人被归类为“应答者”，用吡哆醇治疗是 继续。然后，无反应和有反应的患者被安排在 补充氨基酸的低精氨酸、低蛋白饮食和观察 用于控制或改善这种疾病。如果不考虑病人 符合节食条件的，或者如果他们看起来无法遵守 饮食养生法，我们跟随他们来记录 条件。患有其他形式的视网膜变性的患者，例如 视网膜色素变性、黄斑眼底、幼年性视网膜劈裂和 Bietti的结晶性营养不良，也被检查。他们的课程 将疾病与回状萎缩患者的疾病进行比较。

Patients with gyrate atrophy of the choroid and retina are examined systematically to confirm the diagnosis. Skin fibroblasts from affected patients and family members are grown in tissue culture and assayed for ornithine aminotransferase activity. The results are evaluated for correlation with the presence of homozygosity or heterozygosity for the disease trait. Each patient is given a trial of pyridoxine to see whether the serum concentration of ornithine can be reduced; if so, the patient is classified as a "responder" and treatment with pyridoxine is continued. Nonresponder and responder patients are then placed on a low-arginine, low-protein diet with supplemental amino acids and observed for arrest or improvement of the disease. If patients are not considered eligible for the diet, or if they appear unable to comply with the dietary regimen, we follow them to record the natural progression of the condition. Patients with other forms of retinal degeneration, such as retinitis pigmentosa, fundus flavimaculatus, juvenile retinoschisis, and Bietti's crystalline dystrophy, are also examined. The courses of their diseases are compared with those of gyrate atrophy patients.