The genetic and molecular basis of congenital cataract

Arquivos Brasileiros de Oftalmologia

Alessandro Santana¹  Mauro Waiswo¹ 

[1] ,Irmandade da Santa Casa de Misericórdia de São Paulo Departamento de Oftalmologia Seção de Catarata CongênitaSão Paulo SP ,Brasil

关键词: Cataract;    Blindness;    Crystallins;    Gammacrystallins;    Molecular biology;    Genes;    Mutation;    Catarata;    Cegueira;    Cristalinas;    Gama-cristalinas;    Biologia molecular;    Genes;    Mutação;   

DOI  :  10.1590/S0004-27492011000200016

来源: SciELO

【 摘 要 】

Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births. Approximately fifty percent of all congenital cataract cases may have a genetic cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of the fiber cells and the homeostasis of the lens proteins in terms of their concentration, stability, and supramolecular organization. Research on hereditary congenital cataract led to the identification of several classes of candidate genes that encode proteins such crystallins, lens specific connexins, aquaporine, cytoskeletal structural proteins, and developmental regulators. The purpose of this study was to review the literature on the recent advances made in understanding the molecular genetic basis of congenital cataracts.

【 授权许可】

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