Literature DB >> 24852152

Genetics and ocular disorders: a focused review.

Hannah L Scanga1, Ken K Nischal2.   

Abstract

Increasingly accurate phenotyping leads to better genetic evaluation. Genetic eye conditions may be due to a common cellar defect (eg, ciliopathies or RASopathies). Early-onset retinal dystrophies may be associated with renal disease. An understanding of genetic testing helps clinicians identify shortcomings in testing which may lead to a better understanding of the most appropriate test for a given ocular condition. Dedicated genetic counselors within ophthalmic and pediatric clinics are likely to improve the delivery of clinical care in these settings.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Eye disease; Genetic testing; Genetics; Pediatrics

Mesh:

Year:  2014        PMID: 24852152     DOI: 10.1016/j.pcl.2014.03.005

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN: 0031-3955            Impact factor:   3.278


  3 in total

Review 1.  CRISPR applications in ophthalmologic genome surgery.

Authors:  Thiago Cabral; James E DiCarlo; Sally Justus; Jesse D Sengillo; Yu Xu; Stephen H Tsang
Journal:  Curr Opin Ophthalmol       Date:  2017-05       Impact factor: 3.761

2.  CRISPR-mediated Ophthalmic Genome Surgery.

Authors:  Galaxy Y Cho; Yazeed Abdulla; Jesse D Sengillo; Sally Justus; Kellie A Schaefer; Alexander G Bassuk; Stephen H Tsang; Vinit B Mahajan
Journal:  Curr Ophthalmol Rep       Date:  2017-06-15

3.  Commentary: Genomic testing is a powerful tool in diagnosing and managing anterior segment dysgenesis.

Authors:  Muralidhar Ramappa; Anshuman Verma; Deepak P Edward
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

  3 in total

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