New horizons in aniridia management: Clinical insights and therapeutic advances.

IF 1 Q4 OPHTHALMOLOGY
Taiwan Journal of Ophthalmology Pub Date : 2023-12-20 eCollection Date: 2023-10-01 DOI:10.4103/tjo.TJO-D-23-00140
Abha Gour, Shailaja Tibrewal, Aastha Garg, Mehak Vohra, Ria Ratna, Virender Singh Sangwan
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引用次数: 0

Abstract

Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the PAX6 gene, which affects multiple structures within the eye. Treating these ocular complications is challenging and carries a high risk of side effects. However, emerging approaches for the treatment of aniridia-associated keratopathy, iris abnormalities, cataract abnormalities, and foveal hypoplasia show promise for improved outcomes. Genetic counseling plays a very important role to make informed choices. We also provide an overview of the newer diagnostic and therapeutic approaches such as next generation sequencing, gene therapy, in vivo silencing, and miRNA modulation.

躁狂症治疗的新视野:临床见解和治疗进展。
先天性虹膜缺失症是一种罕见的遗传性眼部疾病,其特征是从出生起就完全或部分缺失虹膜。为了解和解释虹膜缺失症的发病机制,人们提出了各种理论和动物模型。在大多数病例中,虹膜缺失症是由 PAX6 基因突变引起的,该基因突变会影响眼内的多个结构。治疗这些眼部并发症极具挑战性,而且副作用风险很高。不过,新出现的治疗虹膜睫状体病变、虹膜异常、白内障异常和眼窝发育不全的方法有望改善治疗效果。遗传咨询在做出知情选择方面发挥着非常重要的作用。我们还概述了新一代测序、基因治疗、体内沉默和 miRNA 调节等较新的诊断和治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.80
自引率
9.10%
发文量
68
审稿时长
19 weeks
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