The genetic and environmental factors for keratoconus

A Gordon-Shaag, M Millodot… - BioMed research …, 2015 - Wiley Online Library
Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone‐
shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It …

The Ehlers–Danlos syndromes, rare types

AF Brady, S Demirdas… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …

A user's guide to the encyclopedia of DNA elements (ENCODE)

ENCODE Project Consortium - PLoS biology, 2011 - journals.plos.org
The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the
scientific and medical communities to interpret the human genome sequence and apply it to …

A user's guide to the encyclopedia of DNA elements (ENCODE)

RM Myers, J Stamatoyannopoulos, M Snyder… - PLoS …, 2011 - discovery.ucl.ac.uk
The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the
scientific and medical communities to interpret the human genome sequence and apply it to …

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya… - Nature …, 2013 - nature.com
Central corneal thickness (CCT) is associated with eye conditions including keratoconus
and glaucoma. We performed a meta-analysis on> 20,000 individuals in European and …

Keratoconus

RB Singh, S Koh, N Sharma, FA Woreta… - Nature Reviews …, 2024 - nature.com
Keratoconus is a progressive eye disorder primarily affecting individuals in adolescence and
early adulthood. The ectatic changes in the cornea cause thinning and cone-like steepening …

Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …

Primary open-angle glaucoma genes

JH Fingert - Eye, 2011 - nature.com
A substantial fraction of glaucoma has a genetic basis. About 5% of primary open angle
glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie …

The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology

SF Janssen, TGMF Gorgels, WD Ramdas… - Progress in retinal and …, 2013 - Elsevier
Primary open angle glaucoma (POAG) is a complex progressive optic nerve neuropathy
triggered by both environmental and genetic risk factors. Several ocular tissues, including …

Common genetic determinants of intraocular pressure and primary open-angle glaucoma

LME van Koolwijk, WD Ramdas, MK Ikram… - PLoS …, 2012 - journals.plos.org
Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma
and is the only target for current glaucoma therapy. The genetic factors which determine IOP …