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Pediatr Clin North Am. 2014 Jun;61(3):555-65. doi: 10.1016/j.pcl.2014.03.005. Epub 2014 Apr 13.

Genetics and ocular disorders: a focused review.

Author information

1
UPMC Eye Center, University of Pittsburgh, 200 Lothrop Street, Pittsburgh, PA 15213, USA; Children's Eye Center, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224-1334, USA.
2
UPMC Eye Center, University of Pittsburgh, 200 Lothrop Street, Pittsburgh, PA 15213, USA; Children's Eye Center, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224-1334, USA. Electronic address: nischalkk@upmc.edu.

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.

KEYWORDS:

Eye disease; Genetic testing; Genetics; Pediatrics

PMID:
24852152
DOI:
10.1016/j.pcl.2014.03.005
[Indexed for MEDLINE]

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