遗传性先天性白内障：怀疑白内障发生的遗传病因指南。
Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
作者信息
Messina-Baas Olga, Cuevas-Covarrubias Sergio A
机构信息
Department of Ophthalmology, Mexico City, Mexico.
Department of Medical Genetics, Facultad de Medicina, Hospital General de México, UNAM, Mexico City, Mexico.
出版信息
Mol Syndromol. 2017 Mar;8(2):58-78. doi: 10.1159/000455752. Epub 2017 Feb 7.
Abstract
Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form. There are more than 100 genes associated with cataract with a predominance of autosomal dominant inheritance. A cataract is defined as an opacity of the lens producing a variation of the refractive index of the lens. This variation derives from modifications in the lens structure resulting in light scattering, frequently a consequence of a significant concentration of high-molecular-weight protein aggregates. The aim of this review is to introduce a guide to identify the gene involved in inherited CC. Due to the manifold clinical and genetic heterogeneity, we discarded the cataract phenotype as a cardinal sign; a 4-group classification with the genes implicated in inherited CC is proposed. We consider that this classification will assist in identifying the probable gene involved in inherited CC.
摘要
白内障是全球可治疗性失明的主要原因。遗传性先天性白内障（CC）以综合征和非综合征形式呈现出所有类型的遗传模式。有100多个与白内障相关的基因，其中以常染色体显性遗传为主。白内障被定义为晶状体混浊，导致晶状体折射率发生变化。这种变化源于晶状体结构的改变，导致光散射，这通常是高分子量蛋白质聚集体大量聚集的结果。本综述的目的是介绍一份指南，以确定参与遗传性CC的基因。由于临床和遗传的多样性，我们摒弃了白内障表型作为主要标志；提出了一个涉及遗传性CC的基因的四组分类法。我们认为这种分类将有助于确定参与遗传性CC的可能基因。
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