title: The genetic and molecular basis of congenital cataract.
abstract: 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.
authors.affiliation: Seção de Catarata Congênita, Departamento de Oftalmologia, Irmandade da Santa Casa de Misericórdia de São Paulo, SP, Brasil. alessandro-santana@uol.com.br
authors.forename: Alessandro
authors.initials: A
authors.lastname: Santana
authors.forename: Mauro
authors.initials: M
authors.lastname: Waiswo
mesh_terms: D020346:Aquaporins / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D017630:Connexins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*
chemical_list: D020346:Aquaporins; D017630:Connexins; D005136:Eye Proteins