Berson E L, Sandberg M A, Dryja T P
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston.
Trans Am Ophthalmol Soc. 1991;89:117-28; discussion 128-30.
Rhodopsin gene mutations appear to cause some forms of autosomal dominant retinitis pigmentosa. In the family described, the mutation called rhodopsin, Val345Met segregated perfectly with the disease. All affected individuals had abnormal ERGs; the two oldest members of this family had more loss of function than the two youngest members. Some intra-familial variability existed as an older member showed larger visual fields and ERG amplitudes than a younger member. This mutation was not seen in 106 control subjects nor in any other patients yet described with other rhodopsin gene mutations. Patients so far studied with rhodopsin, Val345Met, have smaller 0.5-Hz full-field ERG amplitudes, on average, than those with Pro23His or Thr58Arg and larger ERG amplitudes than those with Pro347Leu or Pro347Ser. These forms of retinitis pigmentosa can now be detected through analysis of leukocyte DNA.
视紫红质基因突变似乎会导致某些常染色体显性遗传性视网膜色素变性。在所描述的家族中，名为视紫红质Val345Met的突变与该疾病完全连锁。所有患病个体的视网膜电图（ERG）均异常；该家族中年龄最大的两名成员比年龄最小的两名成员功能丧失更多。家族内部存在一些变异性，因为一名年龄较大的成员比一名年龄较小的成员具有更大的视野和ERG波幅。在106名对照受试者中未发现此突变，在其他任何已描述的视紫红质基因突变患者中也未发现。到目前为止，对视紫红质Val345Met进行研究的患者，其0.5赫兹全视野ERG波幅平均比携带Pro23His或Thr58Arg突变的患者小，比携带Pro347Leu或Pro347Ser突变的患者大。现在可以通过分析白细胞DNA来检测这些类型的视网膜色素变性。
