Genetics and ocular disorders: a focused review.
Identifieur interne : 002B29 ( PubMed/Curation ); précédent : 002B28; suivant : 002B30Genetics and ocular disorders: a focused review.
Auteurs : Hannah L. Scanga [États-Unis] ; Ken K. Nischal [États-Unis]Source :
- Pediatric clinics of North America [ 1557-8240 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Maladies de l'oeil.
- génétique : Maladies de l'oeil.
- Dépistage génétique, Enfant, Humains, Phénotype.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Eye Diseases.
- genetics : Eye Diseases.
- methods : Genetic Testing.
- Child, Humans, Phenotype.
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.
DOI: 10.1016/j.pcl.2014.03.005
PubMed: 24852152
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pubmed:24852152Le document en format XML
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<front><div type="abstract" xml:lang="en">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.</div>
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<Abstract><AbstractText>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.</AbstractText>
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