Literature DB >> 12843900

[The genetics of hereditary cataract].

F Beby1, L Morle, L Michon, Bozon M, P Edery, C Burillon, Ph Denis.   

Abstract

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.

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Year:  2003        PMID: 12843900

Source DB:  PubMed          Journal:  J Fr Ophtalmol        ISSN: 0181-5512            Impact factor:   0.818


  6 in total

1.  Novel human CRYGD rare variant in a Brazilian family with congenital cataract.

Authors:  Eugênio Santana de Figueirêdo; Gabriel Gorgone Giordano; Anderson Tavares; Márcio José da Silva; José Paulo Cabral de Vasconcellos; Carlos Eduardo Leite Arieta; Mônica Barbosa de Melo
Journal:  Mol Vis       Date:  2011-08-16       Impact factor: 2.367

2.  Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.

Authors:  Alessandro Santana; Mauro Waiswol; Enyr Saran Arcieri; José Paulo Cabral de Vasconcellos; Mônica Barbosa de Melo
Journal:  Mol Vis       Date:  2009-04-17       Impact factor: 2.367

3.  Molecular and structural analysis of genetic variations in congenital cataract.

Authors:  Manoj Kumar; Tushar Agarwal; Punit Kaur; Manoj Kumar; Sudarshan Khokhar; Rima Dada
Journal:  Mol Vis       Date:  2013-11-24       Impact factor: 2.367

4.  [Congenital ocular anomalies at the University Hospital Campus in Lomé, Togo].

Authors:  Bénédicte Marèbe Diatewa; Nidain Maneh; Aboubakr Sidik Domingo; Koboyo Esso-Issinam Gnansa; Yannick Francis Amah Ayikoue; Komi Patrice Balo
Journal:  Pan Afr Med J       Date:  2021-01-22

5.  Association study of candidate genes for primary cataracts and fine-mapping of a candidate region on dog chromosome 1 in Entlebucher mountain dogs.

Authors:  Christina Müller; Ottmar Distl
Journal:  Mol Vis       Date:  2008-05-16       Impact factor: 2.367

6.  Congenital cataract - clinical and morphological aspects.

Authors:  Cătălina Ioana Tătaru; Cătălin Petru Tătaru; Adrian Costache; Ovidiu Boruga; Mihail Zemba; Radu Constantin Ciuluvică; George Sima
Journal:  Rom J Morphol Embryol       Date:  2020       Impact factor: 1.033

  6 in total

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