GYRATE ATROPHY OF THE CHOROID AND RETINA AND OTHER RETINAL DEGENERATIONS

脉络膜和视网膜旋转萎缩以及其他视网膜变性

• 批准号: 3777604
• 负责人: M I KAISER-KUPFER
• 金额: --
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3777604
• 关键词: arginine; autosomal recessive trait; congenital eye disorder; diet therapy; dietary aminoacid; dietary proteins; enzyme mechanism; eye disorder chemotherapy; eye disorder diagnosis; heterozygote; homozygote; human subject; human therapy evaluation; nutrition related tag; ornithine oxoacid transaminase; ornithinemia; pyridoxine; retina degeneration; retinitis pigmentosa; tissue /cell culture

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 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 natal progression of the condition. Patients with other forms of retinal degeneration, such as retinitis pigmentosa, fundus flavimaculatus, juvenile retinoschisis, and Usher's syndrome, also are examined. The courses of their diseases are compared with those of gyrate atrophy patients.

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。受影响的皮肤成纤维细胞 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 评价结果， 与存在的纯合性或杂合性的相关性 疾病特征每个病人都要接受吡哆醇的试验， 可以降低血清中鸟胺酸的浓度;如果是这样，则患者 被归类为“应答者”，继续用吡哆醇治疗。 然后将无应答者和应答者患者置于低精氨酸， 补充氨基酸的低蛋白饮食，并观察是否停止，或 疾病的改善。如果患者被认为不适合 饮食，或者如果他们似乎无法遵守饮食养生法，我们 跟踪他们记录出生时的病情进展患者 对于其它形式的视网膜变性，例如色素性视网膜炎， 眼底黄斑、青少年视网膜劈裂和Usher综合征，也 进行检查。并将其病程与对照组进行比较。 回旋状萎缩患者。