| Literature DB >> 24852152 |
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.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