[The Genetics of Hereditary Cataract]
Overview
Affiliations
Congenital cataracts are an important cause of visual impairment in children. Approximately one-third of congenital cataracts are hereditary. The disease, when inherited as an isolated abnormality, is phenotypically and genetically heterogeneous. Autosomal dominant forms with high penetrance appear to be the most common. To date, thirteen genes have been implicated in cataractogenesis. The identification of the genetic mutations causing congenital cataracts will provide a better understanding of cataractogenesis in childhood and provide further insights into normal lens development.
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.
Khidiyatova I, Khidiyatova I, Zinchenko R, Marakhonov A, Karunas A, Avkhadeeva S Curr Issues Mol Biol. 2023; 45(6):5145-5163.
PMID: 37367076 PMC: 10297118. DOI: 10.3390/cimb45060327.
[Congenital ocular anomalies at the University Hospital Campus in Lomé, Togo].
Diatewa B, Maneh N, Domingo A, Gnansa K, Ayikoue Y, Balo K Pan Afr Med J. 2021; 38:79.
PMID: 33889245 PMC: 8033191. DOI: 10.11604/pamj.2021.38.79.21757.
Congenital cataract - clinical and morphological aspects.
Tataru C, Tataru C, Costache A, Boruga O, Zemba M, Ciuluvica R Rom J Morphol Embryol. 2020; 61(1):105-112.
PMID: 32747900 PMC: 7728133. DOI: 10.47162/RJME.61.1.11.
Molecular and structural analysis of genetic variations in congenital cataract.
Agarwal T, Kaur P, Kumar M, Khokhar S, Dada R Mol Vis. 2013; 19:2436-50.
PMID: 24319337 PMC: 3850972.
Novel human CRYGD rare variant in a Brazilian family with congenital cataract.
de Figueiredo E, Giordano G, Tavares A, da Silva M, de Vasconcellos J, Arieta C Mol Vis. 2011; 17:2207-11.
PMID: 21866214 PMC: 3159680.