Genetics and ocular disorders: a focused review.
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.
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.
Hannah L
HL
Scanga
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.
Ken K
KK
Nischal
D002648:Child; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D010641:Phenotype
Eye disease; Genetic testing; Genetics; Pediatrics