Pathogenesis of thyroid eye disease: review and update on molecular mechanisms
JJ Khong, AA McNab, PR Ebeling, JE Craig… - British Journal of …, 2016 - bjo.bmj.com
Orbital changes in thyroid orbitopathy (TO) result from de novo adipogenesis, hyaluronan
synthesis, interstitial oedema and enlargement of extraocular muscles. Cellular immunity …
synthesis, interstitial oedema and enlargement of extraocular muscles. Cellular immunity …
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
The genetics of central corneal thickness
DP Dimasi, KP Burdon, JE Craig - British Journal of Ophthalmology, 2010 - bjo.bmj.com
Evidence in the recent literature has highlighted the importance of central corneal thickness
(CCT) in relation to several ocular and non-ocular conditions. Most notably, thinner CCT has …
(CCT) in relation to several ocular and non-ocular conditions. Most notably, thinner CCT has …
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
JH Fingert, E Héon, JM Liebmann… - Human molecular …, 1999 - academic.oup.com
Abstract A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene
within this locus (encoding the protein myocilin) subsequently was shown to harbor …
within this locus (encoding the protein myocilin) subsequently was shown to harbor …
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Refractive error is the most common eye disorder worldwide and is a prominent cause of
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …
Pericytes, inflammation, and diabetic retinopathy
BG Spencer, JJ Estevez, E Liu, JE Craig… - …, 2020 - Springer
Diabetic retinopathy (DR) is a frequent complication of diabetes mellitus, and a common
cause of vision impairment and blindness in these patients, yet many aspects of its …
cause of vision impairment and blindness in these patients, yet many aspects of its …
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
We report a genome-wide association study for open-angle glaucoma (OAG) blindness
using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 …
using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 …
[HTML][HTML] Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-
wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
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 …
and glaucoma. We performed a meta-analysis on> 20,000 individuals in European and …
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
We conducted a genome-wide association study for primary open-angle glaucoma (POAG)
in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a …
in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a …