RETINAL FUNCTION AND RHODOPSIN LEVELS IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA WITH RHODOPSIN MUTATIONS
RETINAL FUNCTION AND RHODOPSIN LEVELS IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA WITH RHODOPSIN MUTATIONS
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DOI：
10.1016/s0002-9394(14)76726-1
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发表时间：
1991-09-15
影响因子：
4.2
通讯作者：
NATHANS, J
中科院分区：
文献类型：
--
作者：
JACOBSON, SG;KEMP, CM;NATHANS, J
我们研究了来自6个常染色体显性视网膜色素变性家族的20名患者的视杆细胞和视锥细胞功能，这些患者代表了编码视紫红质基因的5个不同点突变。在一个在分子羧基端有终止密码子突变（谷氨酰胺-344）的家族中，有突变的年轻成员无症状，临床上未受影响，但在整个视野中显示出约1个对数单位的视杆细胞敏感性丧失和视紫红质水平降低;在这个阶段，视锥细胞功能基本正常。在三个跨膜段（精氨酸-135-亮氨酸和精氨酸-135-色氨酸）的边界突变的家庭中，既没有检测到的视杆细胞功能，也没有可测量的视紫红质;视锥细胞功能受损。携带不同突变的两个家族（苏氨酸-17-蛋氨酸和苏氨酸-58-精氨酸）具有高度视野缺陷，其下视野的视杆和视锥功能受损程度低于上级视野。两个家族的视杆细胞适应都是异常的，但两种突变患者的适应时间过程不同。因此，在不同的视紫红质突变的患者中，视网膜功能障碍的模式差异是明显的。
We studied rod and cone function in 20 patients from six families with autosomal dominant retinitis pigmentosa, who represented five different point mutations in the gene encoding rhodopsin. In a family with a stop codon mutation at the carboxyl end of the molecule (glutamine-344), young members with the mutation were asymptomatic and clinically unaffected but showed about 1 log unit of rod sensitivity loss across the visual field and decreased rhodopsin levels; at this stage, cone function was essentially normal. In three families with mutations at the border of a transmembrane segment (arginine-135-leucine and arginine-135-tryptophan), there was neither detectable rod function nor measurable rhodopsin; cone function was variably impaired. Two families carrying different mutations (threonine-17-methionine and threonine-58-arginine) had altitudinal visual field defects with less impaired rod and cone function in the inferior than in the superior field. Rod adaptation was abnormal in both families, but the time course of adaptation differed between patients with the two mutations. Differences in the pattern of retinal dysfunction were therefore discernible in patients with different rhodopsin mutations.