GYRATE ATROPHY OF THE CHOROID AND RETINA

脉络膜和视网膜回旋状萎缩的患者进行检查 系统地确认诊断。 受累皮肤成纤维细胞 患者和家庭成员在组织培养物中生长， 鸟氨酸氨基转移酶活性 将对结果进行评价， 与疾病的纯合性或杂合性存在的相关性 特质 患者将接受吡哆醇试验，以观察血清 可以降低浓度或鸟氨酸，并且如果是这样，则患者将被治疗。 被归类为"反应者"， 持续期间内的 无应答者和应答者患者将被置于低水平 精氨酸，低蛋白饮食与补充氨基酸，并观察 他们的疾病得到抑制或改善。 如果患者不考虑 符合饮食条件或如果他们似乎无法遵守饮食 他们将遵循的方案，以记录自然的进展， 条件 患有其他形式的视网膜变性的患者，如 视网膜色素变性，眼底黄斑，青少年视网膜劈裂， 并与脑回萎缩患者的病程进行比较。

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