Molecular Biological Approach to Hereclitay Detinoclsotdal Disorders

点击翻译按钮获取中文摘要

We screened the DNAs from patients with retinitis pigmentosa by the methods of PCR and SSCP.Afer screening, we determined the sequences of the DNA when abnormal bands were observed by SSCP.So far, two families with the rhodopsin gene mutations (Pro347Leu, Thr17Met) and one family with the peripherin/RDS gene mutation (Asp244Lys) have been found by these methods. We also have observed clinical findings of the families that showed the definite association of genotypes and phenotypes.Acetazolamide has been tried to treat patients with retinitis pigmentosa. The medicine has been useful for the patients with cystoid macular edema. We also have been trying hyperbarix treatment and prostaglandins to patients with retinitits pigmentosa.OAT gene of patients with gyrate atrophy of the choroid and retina has been analyzed. The OAT gene mutations of the Japanese patients were specific, suggesting the relationship between the clinical findings and gene abnormalities.Clinical findings of Japanese patients with X-linked ocular albinism were analyzed. The clinical findings of the Japanese patients were quite diferent from those of other racial patients, suggesting the importance of the clinical data on the races.