Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B
Department of Clinical Chemistry, University Hospital, Lund, Sweden.
Ophthalmic Genet. 1998 Mar;19(1):27-37. doi: 10.1076/opge.19.1.27.2179.
To characterize the clinical phenotype, with emphasis on electrophysiology, of members of a Swedish family with autosomal dominant retinitis pigmentosa due to a novel mutation, F211L, in the peripherin/RDS gene.
Nine patients with autosomal dominant retinitis pigmentosa and two healthy family members underwent a full clinical evaluation including kinetic visual field testing, measurement of dark adaptation threshold, and full-field electroretinography. Blood samples were collected and DNA analysis was performed using denaturing gradient gel electrophoresis (DGGE).
The grandfather, six of seven siblings from the middle generation, and two young boys carried the mutation F211L in the peripherin/RDS gene. The mutation segregated with the clinical presentation of disease. Fundus examination revealed mainly macular atrophy. All assessed parameters of retinal function (visual acuity, dark adaptation threshold, visual fields, and full-field electroretinograms) demonstrated a successive reduction with increasing age. Full-field electroretinograms showed a diminished rod response in all affected individuals and a reduction of the cone b-wave amplitudes with increasing age, indicating retinitis pigmentosa. In the affected family members, the disease seems to progress at a similar rate with increasing age.
The peripherin/RDS gene mutation F211L is associated with a clinical phenotype and includes early loss of rod function and successive reduction of cone function with increasing age, but impressively well-preserved visual acuity and visual fields in young and middle-aged patients and moderately reduced vision in the old patient. Compared to previously described phenotypes segregating with mutations in the peripherin/RDS gene, the present family demonstrates a more benign clinical phenotype, which is concordant within the family.
对一个瑞典家族中因外周蛋白/视网膜变性慢病毒（RDS）基因的新型突变F211L导致的常染色体显性遗传性视网膜色素变性患者的临床表型进行特征描述，重点关注电生理学特征。
对9例常染色体显性遗传性视网膜色素变性患者和2名健康家庭成员进行了全面的临床评估，包括动态视野测试、暗适应阈值测量和全视野视网膜电图检查。采集血样并使用变性梯度凝胶电泳（DGGE）进行DNA分析。
祖父、中间一代的7个兄弟姐妹中的6个以及2个小男孩携带外周蛋白/RDS基因的F211L突变。该突变与疾病的临床表现相关。眼底检查主要显示黄斑萎缩。所有评估的视网膜功能参数（视力、暗适应阈值、视野和全视野视网膜电图）均显示随着年龄增长而逐渐下降。全视野视网膜电图显示所有受影响个体的视杆细胞反应减弱，且随着年龄增长视锥细胞b波振幅降低，提示视网膜色素变性。在受影响的家庭成员中，疾病似乎随着年龄增长以相似的速度进展。
外周蛋白/RDS基因突变F211L与一种临床表型相关，包括视杆细胞功能早期丧失以及随着年龄增长视锥细胞功能逐渐下降，但令人印象深刻的是，年轻和中年患者的视力和视野保存良好，老年患者视力中度下降。与先前描述的与外周蛋白/RDS基因突变相关的表型相比，本家族表现出更良性的临床表型，且在家族内部具有一致性。
