Roberts Lisa, Rebello George, Ramesar Rajkumar, Greenberg Jacquie
J Ocul Biol Dis Infor. 2008 Mar;1(1):55-8. doi: 10.1007/s12177-008-9001-7. Epub 2008 May 29.
Mutation analysis of retinal candidate genes is performed as part of an ongoing research to identify the causative genetic defect in South African families with retinal degenerative disorders (RDDs). A translational research protocol has been established whereby probands are counseled and given their molecular genetic results to take back to other family members, who can then request individual diagnostic testing. A Thr17Met mutation of the rhodopsin gene was identified in a Caucasian South African family with autosomal dominant retinitis pigmentosa. Patients with this mutation appear to benefit from treatment using oral vitamin A supplementation. This family has been informed that a molecular diagnosis is available; however, one individual has refused testing and none of the younger generation has shown interest in receiving molecular results or genetic counseling. Adapting the established protocol for the translation of RDD research results and contacting mutation positive individuals may be justifiable in light of the potential benefit of therapy.
作为一项正在进行的研究的一部分，对视网膜候选基因进行突变分析，以确定南非患有视网膜退行性疾病（RDD）家庭中的致病基因缺陷。已经建立了一项转化研究方案，为先证者提供咨询并告知其分子遗传学结果，以便他们带回给其他家庭成员，然后这些家庭成员可以要求进行个体诊断检测。在一个患有常染色体显性视网膜色素变性的南非白人家庭中，发现了视紫红质基因的Thr17Met突变。患有这种突变的患者似乎从口服维生素A补充剂治疗中受益。这个家庭已被告知可以进行分子诊断；然而，有一个人拒绝检测，年轻一代中也没有人表现出对接受分子结果或遗传咨询的兴趣。鉴于治疗的潜在益处，调整已建立的RDD研究结果转化方案并联系突变阳性个体可能是合理的。
