Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

IF 4.9 2区 医学 Q1 OPHTHALMOLOGY
Petra Liskova, Pavlina Skalicka, Lubica Dudakova, Andrea L Vincent
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引用次数: 0

Abstract

Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit-lamp appearance, affected corneal layer and histological features. Molecular genetics has provided ultimate proof for the existence of distinct corneal dystrophies and discarded duplicates in their terminology. Currently, there are at least 16 genes with identified pathogenic variants implicated in corneal dystrophies. Herein, we summarise contemporary knowledge on genotype-phenotype correlations of corneal dystrophies, including a critical review of some reported variants, along with the understanding of the underlying pathogenic dystrophic process; essential knowledge for the development of targeted therapies.

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来源期刊
CiteScore
7.60
自引率
12.50%
发文量
150
审稿时长
4-8 weeks
期刊介绍: Clinical & Experimental Ophthalmology is the official journal of The Royal Australian and New Zealand College of Ophthalmologists. The journal publishes peer-reviewed original research and reviews dealing with all aspects of clinical practice and research which are international in scope and application. CEO recognises the importance of collaborative research and welcomes papers that have a direct influence on ophthalmic practice but are not unique to ophthalmology.
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