Primary angle‐closure glaucoma: an update

C Wright, MA Tawfik, M Waisbourd… - Acta …, 2016 - Wiley Online Library
Primary angle‐closure glaucoma is potentially a devastating disease, responsible for half of
glaucoma‐related blindness worldwide. Angle closure is characterized by appositional …

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas… - Human Genetics, 2019 - Springer
Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

VJM Verhoeven, PG Hysi, R Wojciechowski, Q Fan… - Nature …, 2013 - nature.com
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 …

Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia

AK Kiefer, JY Tung, CB Do, DA Hinds… - PLoS …, 2013 - journals.plos.org
Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from
excess elongation of the eye. The etiology of myopia, although known to be complex, is …

Nanophthalmos: a review of the clinical spectrum and genetics

PC Carricondo, T Andrade, L Prasov… - Journal of …, 2018 - Wiley Online Library
Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but
structurally normal eye. These disorders present significant clinical challenges to …

Molecular genetics in glaucoma

Y Liu, RR Allingham - Experimental eye research, 2011 - Elsevier
Glaucoma is a family of diseases whose pathology is defined by the progressive loss of
retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with …

Mutations in LRPAP1 are associated with severe myopia in humans

MA Aldahmesh, AO Khan, H Alkuraya, N Adly… - The American Journal of …, 2013 - cell.com
Myopia is an extremely common eye disorder but the pathogenesis of its isolated form,
which accounts for the overwhelming majority of cases, remains poorly understood. There is …

The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood

D Jackson, M Moosajee - Annual Review of Genomics and …, 2023 - annualreviews.org
The axial length of the eye is critical for normal visual function by enabling light to precisely
focus on the retina. The mean axial length of the adult human eye is 23.5 mm, but the …

The molecular basis of human anophthalmia and microphthalmia

P Harding, M Moosajee - Journal of developmental biology, 2019 - mdpi.com
Human eye development is coordinated through an extensive network of genetic signalling
pathways. Disruption of key regulatory genes in the early stages of eye development can …

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

SJ Garnai, ML Brinkmeier, B Emery, TS Aleman… - PLoS …, 2019 - journals.plos.org
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes
with relatively normal anatomy, a high hyperopic refractive error, and frequent association …