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Genetics and Ocular Disorders:A Focused Review

Authors
Journal
Pediatric Clinics of North America
0031-3955
Publisher
Elsevier
Volume
61
Issue
3
Identifiers
DOI: 10.1016/j.pcl.2014.03.005
Keywords
  • Eye Disease
  • Genetics
  • Genetic Testing
  • Pediatrics
Disciplines
  • Medicine

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.

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