Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis

Molecular syndromology

Olga Messina-Baas¹ 

关键词: Clinical heterogeneity;    Clinical variability;    Congenital cataract;    Genetic heterogeneity;   

DOI  :  10.1159/000455752

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

CC BY