Genetic testing for inherited ocular disease: delivering on the promise at last?
- 21 August 2013
- journal article
- review article
- Published by Wiley in Clinical & Experimental Ophthalmology
- Vol. 42 (1), 65-77
- https://doi.org/10.1111/ceo.12159
Abstract
Genetic testing is of increasing clinical utility for diagnosing inherited eye disease. Clarifying a clinical diagnosis is important for accurate estimation of prognosis, facilitating genetic counselling and management of families, and in the future will direct gene-specific therapeutic strategies. Often, precise diagnosis of genetic ophthalmic conditions is complicated by genetic heterogeneity, a difficulty that the so-called next-generation sequencing' technologies promise to overcome. Despite considerable counselling and ethical complexities, next-generation sequencing offers to revolutionize clinical practice. This will necessitate considerable adjustment to standard practice but has the power to deliver a personalized approach to genomic medicine for many more patients and enhance the potential for preventing vision loss.Keywords
This publication has 81 references indexed in Scilit:
- Next‐generation genetic testing for retinitis pigmentosaHuman Mutation, 2012
- Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologistEye, 2011
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsNature, 2010
- Clinical assessment incorporating a personal genomeThe Lancet, 2010
- Preimplantation Genetic Diagnosis for Stargardt DiseaseAmerican Journal of Ophthalmology, 2010
- Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patientsEuropean Journal of Human Genetics, 2010
- Next-generation DNA sequencingNature Biotechnology, 2008
- Rationale and design of a randomized clinical trial of β-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndromeAmerican Heart Journal, 2007
- Cigarette Smoking, CFH, APOE, ELOVL4, and Risk of Neovascular Age-Related Macular DegenerationAmerican Journal of Ophthalmology, 2007
- CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degenerationNature Genetics, 2006