Kannabiran Chitra, Mariappan Indumathi
Kallam Anji Reddy Molecular Genetics Laboratory, L. V. Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad 500 034, India.
J Genet. 2018 Mar;97(1):341-352.
Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies. Therapeutic avenues that are being investigated for these disorders include gene therapy to replace the defective gene, treatment with neurotrophic factors to stimulate the growth of photoreceptors, cell replacement therapy, and prosthetic devices that can capture light and transmit electrical signals through retinal neurons to the brain. Several of these are in process of human trials in patients, and have shown safety and efficacy of the treatment. A combination of approaches that involve both gene replacement and cell replacement may be required for optimum benefit.
遗传性视网膜疾病，也被称为视网膜变性或营养不良，是一大类遗传性眼部疾病，会导致不可逆的视力丧失和失明。它们是由一个或多个基因发生突变引起的，这些突变会导致视网膜光感受器细胞死亡。迄今为止，已知超过200个基因的突变与各种不同形式的视网膜疾病有关。这类疾病巨大的基因异质性在理解疾病机制和开发合适的治疗方法方面带来了许多挑战。针对这些疾病正在研究的治疗途径包括基因治疗以替代缺陷基因、用神经营养因子治疗以刺激光感受器生长、细胞替代疗法以及能够捕获光线并通过视网膜神经元将电信号传输到大脑的假体装置。其中几种正在患者身上进行人体试验，并且已经显示出治疗的安全性和有效性。为了获得最佳效果，可能需要将基因替代和细胞替代相结合的方法。
