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Genomics|Features|Eye Diseases

Eye Diseases and Healthy Vision

Eye Diseases: Impact of Genomics on Ophthalmology Practice - May 12, 2015

CDC and Related Info

• Healthy vision: Make it last a lifetime
• The new smoking story: Going blind
• CDC tips from former smokers
• Common eye diseases include age-related macular degeneration
• The CDC Vision Health Initiative (VHI)
• Check out genes reported in relation to myopia,from the HuGE Navigator
• Genes reported in relation to macular degeneration, including genomewide association studies via theHuGE Navigator
• Genes reported in relation to glaucoma, including genomewide association studies via theHuGE Navigator

CDC information:Healthy vision: Make it last a lifetime

Gene therapy for blindness works! By R Lewis, PLoS Blogs, May 7

Long-term effect of gene therapy on Leber's congenital amaurosis
Bainbridge JWB et al. New Engl J Med, May 4, 2015

Long-term effects of retinal gene therapy in childhood blindness
Wright AF, New Engl J Med, May 4, 2015

Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.
Lee K et al. Genet. Med. 2015 Mar 19.

Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.
Huang XF et al. Genet. Med. 2015 Jan 8.

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al. Genet. Med. 2014 Nov 20.

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF et al. Genet. Med. 2014 Nov 6.

Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Sundaresan P et al. Genet. Med. 2014 Sep 18.

Personalized ophthalmology.
Porter LF et al. Clin. Genet. 2014 Jul (1) 1-11

Vision from next generation sequencing: Multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease.
Yang HJ et al. Prog Retin Eye Res 2015 Feb 7.

Macular Degeneration: Smoking, Genomics and Public Health - March 30, 2015

CDC Feature: The new smoking story: Going blind

CDC tips from former smokers
Marlene developed an advanced eye disease called age-related macular degeneration

Risk factors for macular degeneration
Include smoking, family health history and genetics, from the Mayo Clinic

Age-related macular degeneration: insights into inflammatory genes.
Cascella R et al. J Ophthalmol 2014 582842

Nature and nurture- genes and environment- predict onset and progression of macular degeneration.
Sobrin L et al. Prog Retin Eye Res 2014 May 1-15

Genetic testing for age-related macular degeneration: Not indicated now.
Stone EM et al. JAMA Ophthalmol 2015 Mar 19.

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.
Kavanagh D et al. Hum. Mol. Genet. 2015 Mar 18.

Lens status influences the association between CFH polymorphisms and age-related macular degeneration: Findings from two population-based studies in Singapore.
Wong CW et al. PLoS ONE 2015 (3) e0119570

Association of smoking and CFH and ARMS2 risk variants with younger age at onset of neovascular age-related macular degeneration.
Lechanteur YT et al. JAMA Ophthalmol 2015 Feb 19.

Risk prediction for progression of macular degeneration: 10 common and rare genetic variants, demographic, environmental, and macular covariates.
Seddon JM et al. Invest. Ophthalmol. Vis. Sci. 2015 Feb 5.

Pharmacogenomics of response to anti-VEGF therapy in exudative age-related macular degeneration.
Dedania VS et al. Retina (Philadelphia, Pa.) 2015 Mar (3) 381-91

Genetic testing in persons with age-related macular degeneration and the use of the AREDS supplements: to test or not to test?
Chew EY et al. Ophthalmology 2015 Jan (1) 212-5

Does genetic variation influence response to treatment with vascular endothelial growth factor inhibitors in neovascular age-related macular degeneration?
Chakravarthy U et al. Ophthalmic Epidemiol 2014 Dec (6) 345-6

The role of epigenetics in age-related macular degeneration.
Gemenetzi M et al. Eye (Lond) 2014 Dec (12) 1407-17

Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration.
Cooke BJ et al. Cold Spring Harb Perspect Med 2014 Dec (12) a017186

Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.
Restrepo NA et al. Invest. Ophthalmol. Vis. Sci. 2014 Oct (10) 6839-50

Direct-to-consumer personal genome testing for age-related macular degeneration.
Buitendijk GH et al. Invest. Ophthalmol. Vis. Sci. 2014 Oct (10) 6167-74

Myopia: Public Health and Genomic Insights - March 23, 2015

The myopia boom
Short-sightedness is reaching epidemic proportions. Some scientists think they have found a reason why. 
By Elie Dolgin, Nature News, Mar 19

Facts about myopia, from the National Eye Institute

Risk factors for myopia include family health history,from the Mayo Clinic

Check out genes reported in relation to myopia, from the HuGE Navigator

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
Simpson CL et al. PLoS ONE 2014 (9) e107110

Genome-wide association study success in ophthalmology.
Mackey DA et al. Curr Opin Ophthalmol 2014 Sep (5) 386-93

Impact of parental history of myopia on the development of myopia in mainland china school-aged children.
Lim LT et al. Ophthalmol Eye Dis 2014 31-5

Meta-analysis of the association between lumican gene polymorphisms and susceptibility to high Myopia.
He M et al. PLoS ONE 2014 (6) e98748

Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future.
Hysi PG et al. Invest. Ophthalmol. Vis. Sci. 2014 May (5) 3344-51

Epidemiology of myopia.
Foster PJ et al. Eye (Lond) 2014 Feb (2) 202-8

Genetic and environmental effects on myopia development and progression.
Goldschmidt E et al. Eye (Lond) 2014 Feb (2) 126-33

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Cheng CY et al. Am. J. Hum. Genet. 2013 Aug 8. (2) 264-77

Education influences the role of genetics in myopia.
Verhoeven VJ M et al. Eur. J. Epidemiol. 2013 Dec (12) 973-80

Advances in the genomics of common eye diseases.
Cooke BJN et al. Hum. Mol. Genet. 2013 Oct 15. (R1) R59-65

Glaucoma Awareness: Recent Genomic Insights - January 15, 2015

January is Glaucoma Awareness Month - Get facts about glaucoma and a dilated eye exam if you're at higher risk, information from the U.S. Surgeon General ‏

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB, et al. Genetics in Medicine, November 2014

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Springelkamp H, et al. Nat Commun. 2014 Sep 22;5:4883.

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Hysi PG, et al. Nat Genet. 2014 Oct;46(10):1126-30

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
Liu Y, et al. Invest Ophthalmol Vis Sci. 2014 Nov 20;55(12):8251-8

GENOME-wide genetic interaction analysis of glaucoma using expert knowledge derived from human phenotype networks.  [PDF 820.92 KB] 
TING HU et al. PSB 2015 meeting proceedings 

Age-Related Macular Degeneration: Role of Genetics - November 14, 2013

CDC information: Common eye diseases include age-related macular degeneration

Genetics of age-related macular degeneration: from the NIH Genetics Home Reference

Prediction of age-related macular degeneration in the general population: The three continent AMD consortium. 
Buitendijk GH et al. Ophtalmology, Oct 2013

Did you know? 270 genes have been reported with risk and outcome of macular degeneration? The most cited are CFH, ARMS2 and HTRA1. To find out more, visit the HuGE Navigator

Find out which genetic conditions and tests are available for age-related macular degeneration from the NIH Genetic Testing Registry

Glaucoma: Recent Genomic Insights - September 4, 2014

An assessment of the health and economic burdens of glaucoma. 
R Varma et al. Am J Ophthalmology (2011)

Facts about glaucoma from the National Eye Institute 

Ethnicity and the genetics of glaucoma, by Viet Le, PLOS blog post- public health perspectives (2013) 

Family health history of glaucoma is a risk factor for developing glaucoma, information from the Mayo Clinic 

Did you know? 264 genes have been reported in relation to risk and outcomes of glaucoma including 35 genomewide association studies? To find out more, visit the HuGE Navigator

Find out which genetic conditions and tests are associated with glaucoma, from the NIH Genetic Testing Registry

Recent Insights

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. 
Pirro G Hysi et al. Nature Genetics, August 31, 2014 

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Puya Gharahkhani et al. Nature Genetics, August 31, 2014 

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. 
Yuhong Chen et al. Nature Genetics, August 31, 2014

May is Healthy Vision Month - May 21, 2014

NIH information: Your eyes are your window on the world: learn how you can protect them

NIH Information: Keep your eyes healthy: Know your family health history We get our eye color from our parents, but did you know that eye health can be hereditary, too?

The CDC Vision Health Initiative (VHI) promotes vision health and quality of life for all populations, through all life stages

CDC information: Common eye disorders include refractive errors, age related macular degeneration, cataracts, glaucoma and diabetic retinopathy

Family health history of macular degeneration. If someone in your family had macular degeneration, you're more likely to develop age-related macular degeneration. From the Mayo Clinic

Did you know? > 300 genes have been reported in relation to risk and outcomes of macular degeneration including 29 genomewide association studies? To find out more, visit the HuGE Navigator