Literature DB >> 28544770

Screening, genetics, risk factors, and treatment of neonatal cataracts.

Jinyu Li1,2, Chun-Hong Xia3, Eddie Wang3, Ke Yao1,2, Xiaohua Gong3.   

Abstract

Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children. For example, mutations in lens crystallins and membrane/cytoskeletal components that commonly underlie genetically inherited cataracts are now known. However, many questions still remain regarding the causes, progression, and pathology of neonatal cataracts. Further investigations are also required to improve diagnostic criteria for determining the timing of appropriate interventions, such as the implantation of intraocular lenses and postoperative management strategies, to ensure safety and predictable visual outcomes for children. Birth Defects Research 109:734-743, 2017.
© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  cataract; development; eye; lens; vision

Mesh:

Year:  2017        PMID: 28544770      PMCID: PMC9211061          DOI: 10.1002/bdr2.1050

Source DB:  PubMed          Journal:  Birth Defects Res            Impact factor:   2.661


  119 in total

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4.  Aquaporin-0 targets interlocking domains to control the integrity and transparency of the eye lens.

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Journal:  Invest Ophthalmol Vis Sci       Date:  2014-03-03       Impact factor: 4.799

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Authors:  Wai H Chan; Susmito Biswas; Jane L Ashworth; I Christopher Lloyd
Journal:  Eur J Pediatr       Date:  2012-03-01       Impact factor: 3.183

6.  Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

Authors:  Wei He; Xin Li; Jiajing Chen; Ling Xu; Feng Zhang; Qiushi Dai; Hao Cui; Duen-Mei Wang; Jun Yu; Songnian Hu; Shan Lu
Journal:  Ophthalmic Genet       Date:  2010-12-21       Impact factor: 1.803

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Authors:  Fangqin Ma; Qi Wang; Lihua Wang
Journal:  Front Med       Date:  2012-12-07       Impact factor: 4.592

8.  Axial eye length growth and final refractive outcome after unilateral paediatric cataract surgery.

Authors:  Marije L Sminia; Jan T H N de Faber; Denise J Doelwijt; René J Wubbels; Martha Tjon-Fo-Sang
Journal:  Br J Ophthalmol       Date:  2009-08-18       Impact factor: 4.638

9.  Dominant cataract formation in association with a vimentin assembly disrupting mutation.

Authors:  Martin Müller; Shomi S Bhattacharya; Tony Moore; Quincy Prescott; Tatjana Wedig; Harald Herrmann; Thomas M Magin
Journal:  Hum Mol Genet       Date:  2009-01-06       Impact factor: 6.150

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Journal:  Eye (Lond)       Date:  2016-08-12       Impact factor: 3.775

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  5 in total

1.  Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.

Authors:  Hande Taylan Sekeroglu; Beren Karaosmanoglu; Ekim Z Taskiran; Pelin O Simsek Kiper; Mehmet Alikasifoglu; Koray Boduroglu; Turgay Coskun; Gulen Eda Utine
Journal:  Mol Syndromol       Date:  2020-09-09

2.  Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Authors:  Muhammad Ansar; Hyung-Lok Chung; Rachel L Taylor; Aamir Nazir; Samina Imtiaz; Muhammad T Sarwar; Alkistis Manousopoulou; Periklis Makrythanasis; Sondas Saeed; Emilie Falconnet; Michel Guipponi; Constantin J Pournaras; Maqsood A Ansari; Emmanuelle Ranza; Federico A Santoni; Jawad Ahmed; Inayat Shah; Khitab Gul; Graeme Cm Black; Hugo J Bellen; Stylianos E Antonarakis
Journal:  Am J Hum Genet       Date:  2018-10-04       Impact factor: 11.025

3.  Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Authors:  Hande Taylan Şekeroğlu; Gülen Eda Utine
Journal:  Turk J Ophthalmol       Date:  2021-04-29

4.  GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.

Authors:  Li Li; Da-Bei Fan; Ya-Ting Zhao; Yun Li; Zi-Bing Yang; Guang-Ying Zheng
Journal:  Sci Rep       Date:  2019-12-16       Impact factor: 4.379

5.  Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Authors:  Caroline Lenfant; Patrick Baz; Anne Degavre; Anne Philippi; Valérie Senée; Claire Vandiedonck; Céline Derbois; Marc Nicolino; Pierre Zalloua; Cécile Julier
Journal:  Genes (Basel)       Date:  2017-11-07       Impact factor: 4.096

  5 in total

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