ABNORMAL ROD DARK-ADAPTATION IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA WITH PROLINE-23-HISTIDINE RHODOPSIN MUTATION
ABNORMAL ROD DARK-ADAPTATION IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA WITH PROLINE-23-HISTIDINE RHODOPSIN MUTATION
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DOI：
10.1016/s0002-9394(14)71529-6
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发表时间：
1992-02-15
影响因子：
4.2
通讯作者：
NATHANS, J
中科院分区：
文献类型：
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作者：
KEMP, CM;JACOBSON, SG;NATHANS, J
我们研究了来自四个家族的 13 名患者的视杆细胞和视锥细胞功能，这些患者患有常染色体显性遗传色素性视网膜炎和脯氨酸-23-组氨酸视紫红质突变。在这种疾病的早期阶段的患者中，整个视网膜的视杆细胞敏感性轻度异常，而视锥细胞敏感性正常。在受影响更严重的患者中，敏感性丧失因视网膜区域而异，一些区域仅表现出轻度视杆细胞丧失，而其他区域则具有明显的视杆细胞和视锥细胞功能障碍。视紫红质水平降低至低于正常水平，表明视杆细胞敏感性损失是由吸收光的能力降低决定的。该基因型最典型的异常是暗适应的缓慢杆状分支，无论疾病的范围或严重程度如何，该分支都存在。恢复杆灵敏度所需的时间是正常时间的两倍以上。这些暗适应视野检查、眼底反射测量和暗适应测量的结果显示出家庭内和家庭间的一致性。
We studied rod and cone function in 13 patients from four families with autosomal dominant retinitis pigmentosa and the proline-23-histidine rhodopsin mutation. In patients with early stages of this disease, rod sensitivity was mildly abnormal throughout the retina and cone sensitivity was normal. In more severely affected patients, sensitivity loss varied with retinal region, some regions showing mild rod loss only and other regions having pronounced rod and cone dysfunction. Rhodopsin levels were decreased below normal by amounts that indicated the rod sensitivity loss was determined by the reduced ability to absorb light. The most characteristic abnormality of this genotype was a slowed rod branch of dark adaptation, which was present regardless of the extent or severity of disease. The time required for recovery of rod sensitivity was more than twice the normal time. These findings with dark-adapted perimetry, fundus reflectometry, and dark adaptometry showed intrafamilial and interfamilial consistency.