Molecular Signaling and Gene Therapy Unit, GROW Research Laboratory, Narayana Nethralaya Foundation, Narayana Nethralaya Eye Hospital, Bengaluru, Karnataka, India.
Indian J Ophthalmol. 2022 Jul;70(7):2232-2238. doi: 10.4103/ijo.IJO_322_22.
Rare eye diseases (REDs) are mostly progressive and are the leading cause of irreversible blindness. The disease onset can vary from early childhood to late adulthood. A high rate of consanguinity contributes to India's predisposition to RED. Most gene variations causing REDs are monogenic and, in some cases, digenic. All three types of Mendelian inheritance have been reported in REDs. Some of the REDs are related to systemic illness with variable phenotypes in affected family members. Approximately, 50% of the children affected by REDs show associated phenotypes at the early stages of the disease. A precise clinical diagnosis becomes challenging due to high clinical and genetic heterogeneity. Technological advances, such as next-generation sequencing (NGS), have improved genetic and genomic testing for REDs, thereby aiding in determining the underlying causative gene variants. It is noteworthy that genetic testing together with genetic counseling facilitates a more personalized approach in the accurate diagnosis and management of the disease. In this review, we discuss REDs identified in the Indian population and their underlying genetic etiology.
罕见眼病（REDs）大多是进行性的，是导致不可逆转失明的主要原因。疾病的发作时间从儿童早期到成年后期不等。高近亲结婚率导致印度易患 RED。大多数导致 RED 的基因突变是单基因的，在某些情况下是双基因的。孟德尔遗传的所有三种类型都在 RED 中报告过。一些 REDs 与系统性疾病有关，受影响的家庭成员表现出不同的表型。大约 50%的受 RED 影响的儿童在疾病的早期阶段表现出相关表型。由于高度的临床和遗传异质性，精确的临床诊断变得具有挑战性。技术进步，如下一代测序（NGS），已经改进了 RED 的遗传和基因组测试，从而有助于确定潜在的致病基因突变。值得注意的是，遗传测试与遗传咨询相结合，可以更准确地诊断和管理疾病，为患者提供更个性化的治疗方案。在这篇综述中，我们讨论了在印度人群中发现的 REDs 及其潜在的遗传病因。
