Pediatr Clin North Am 2014 Jun 13;61(3):555-65. Epub 2014 Apr 13.
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:
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.