Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Clin Genet. 2013 Aug;84(2):175-82. doi: 10.1111/cge.12165. Epub 2013 May 13.
Severe blinding retinal degenerative diseases have been without treatments that could improve vision until recently. Gene therapy has been in clinical trials for certain inherited retinopathies in which photoreceptors are retained despite severe visual loss. Optogenetics is being discussed for retinal diseases in which there is severe visual loss and nearly complete photoreceptor cell death. As a retinal therapy, optogenetics would be the genetic targeting of light-sensing molecules to residual cells in a degenerate retina. Parallel with scientific advances in optogenetics should be the development of detailed criteria for patient candidacy. Here, molecularly defined retinal degenerations are used to exemplify how some diseases or stages of disease would satisfy the criteria. Measurements are made of the thickness of ganglion cell and the nerve fiber layers of the retina. Whereas the clinical category of retinitis pigmentosa has been most often mentioned for treatment by optogenetics, an argument is made for expanding the target diseases to some early-onset disorders diagnosed as Leber congenital amaurosis.
严重致盲性视网膜退行性疾病在最近之前一直缺乏可以改善视力的治疗方法。基因疗法已经在某些遗传性视网膜病变的临床试验中进行，尽管存在严重的视力丧失，但感光器仍得以保留。光遗传学也正在讨论中，用于那些严重视力丧失和几乎完全光感受器细胞死亡的视网膜疾病。作为一种视网膜疗法，光遗传学将是将感光分子靶向到变性视网膜中的残留细胞。随着光遗传学的科学进步，应该制定详细的患者候选标准。在这里，使用分子定义的视网膜变性来举例说明某些疾病或疾病阶段将如何满足标准。对视网膜的神经节细胞和神经纤维层的厚度进行测量。虽然光遗传学治疗最常提到的临床类别是色素性视网膜炎，但有人认为应该将目标疾病扩大到一些早期发病的疾病，如莱伯先天性黑矇。
