Richards J E, Kuo C Y, Boehnke M, Sieving P A
Department of Ophthalmology, University of Michigan, W. K. Kellogg Eye Center, Ann Arbor 48105.
Ophthalmology. 1991 Dec;98(12):1797-805. doi: 10.1016/s0161-6420(91)32047-5.
The authors report a family in which a Thr58Arg rhodopsin mutation co-segregates with the disease phenotype of autosomal dominant retinitis pigmentosa (RP) in 16 family members. DNA sequence determination confirms the presence of the same mutation reported previously for one family apparently unrelated to the pedigree now reported. Features of RP in this family included a later onset of symptoms, with night blindness first noticed between ages 12 to 24 years. Although symptoms worsened with age, no complete blindness was observed even with advanced age. Results of psychophysical and electrophysiologic testing showed that a 19-year-old affected woman and her 65-year-old affected uncle had relatively similar extent of visual dysfunction, and that the vision of both was better than 2 of their relatives aged 37 and 53 years. This study presents a range of phenotypic similarities and differences observed between individuals whose RP appears to be caused by the same mutation.
作者报告了一个家族，其中16名家族成员的常染色体显性视网膜色素变性（RP）疾病表型与Thr58Arg视紫红质突变共分离。DNA序列测定证实了先前报道的一个与现在报道的家系明显无关的家族中存在相同的突变。该家族中RP的特征包括症状出现较晚，夜盲症最早在12至24岁之间被发现。尽管症状随年龄加重，但即使到了高龄也未观察到完全失明。心理物理学和电生理测试结果表明，一名19岁的患病女性和她65岁的患病叔叔的视觉功能障碍程度相对相似，且他们两人的视力都优于另外两名37岁和53岁的亲属。这项研究展示了在RP似乎由相同突变引起的个体之间观察到的一系列表型相似性和差异。
