Andréasson S, Ehinger B, Abrahamson M, Fex G
Department of Ophthalmology, Lund University Hospital, Sweden.
Ophthalmic Paediatr Genet. 1992 Sep;13(3):145-53. doi: 10.3109/13816819209046483.
This study documents the ophthalmological findings in a six-generation. Swedish family with autosomal dominant retinitis pigmentosa with a previously unknown rhodopsin, exon 2, mutation, Arg-135-Leu (CGG to CTG). Six affected patients from the family were available for analysis and were all found to be heterozygous for the mutation, whereas eight clinically normal family members and 29 unrelated normal individuals did not have it. The disease appears to be of a type with comparatively rapid progression to blindness.
本研究记录了一个瑞典的六代家族性常染色体显性遗传性视网膜色素变性的眼科检查结果，该家族携带一种此前未知的视紫红质基因第2外显子突变，即精氨酸135突变为亮氨酸（CGG突变为CTG）。该家族中有6名患病患者可供分析，均被发现为该突变的杂合子，而8名临床正常的家族成员和29名无关的正常个体未携带该突变。该疾病似乎属于一种进展相对较快、会导致失明的类型。
