OCULAR FINDINGS IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA AND A RHODOPSIN GENE DEFECT (PRO-23-HIS)
OCULAR FINDINGS IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA AND A RHODOPSIN GENE DEFECT (PRO-23-HIS)
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DOI：
10.1001/archopht.1991.01080010094039
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发表时间：
1991-01-01
影响因子：
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通讯作者：
DRYJA, TP
中科院分区：
文献类型：
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作者：
BERSON, EL;ROSNER, B;DRYJA, TP
眼部检查结果来自17例不相关的患者，这些患者患有一种常染色体显性视网膜色素变性，并且在视紫红质基因的密码子23中存在相同的胞嘧啶-腺嘌呤颠换，对应于视紫红质第23位氨基酸中的脯氨酸被组氨酸取代（指定为视紫红质，Pro-23-His）。 平均而言，这些患者（平均年龄，37岁）有显着更好的视力和更大的视网膜电图振幅比131例无关的患者（平均年龄，32岁），常染色体显性视网膜色素变性没有这种突变。 然而，这17名来自不同家族的患者，以及来自其中4个家族的12名具有突变的亲属，在其眼部疾病的严重程度方面显示出家族间和家族内的变异性，这表明除了该基因缺陷本身之外的一些因素参与了其病症的表达。 这种形式的视网膜色素变性现在可以通过检测外周血中的白细胞DNA来检测。 一些机制，这种突变的视紫红质基因可能导致视杆细胞死亡的建议。
Ocular findings are presented from 17 unrelated patients with a form of autosomal dominant retinitis pigmentosa and the same cytosine-to-adenine transversion in codon 23 of the rhodopsin gene corresponding to a substitution of histidine for proline in the 23rd amino acid of rhodopsin (designated rhodopsin, Pro-23-His). On average, these patients (mean age, 37 years) had significantly better visual acuity and larger electroretinographic amplitudes than 131 unrelated patients (mean age, 32 years) with autosomal dominant retinitis pigmentosa without this mutation. However, these 17 patients from separate families, as well as 12 relatives with the mutation from four of these families, showed interfamilial and intrafamilial variability with respect to severity of their ocular disease, suggesting that some factor(s) other than this gene defect itself is involved in the expression of their condition. This form of retinitis pigmentosa can now be detected by testing leukocyte DNA from peripheral blood. Some mechanisms by which this mutation in the rhodopsin gene could lead to rod photoreceptor cell death are suggested.