The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …

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 …

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 …

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 …

Background Cerebral small‐vessel disease (cSVD) is an important cause of stroke and
vascular dementia. Most cases are multifactorial, but an emerging minority have a …

Purpose Ocular anterior segment disorders (ASDs) are clinically and genetically
heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate …

Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can
cause significant visual impairment. Molecular diagnosis is challenging as the genes …

Ocular anterior segment dysgenesis (ASD) refers to a collection of developmental disorders
affecting the anterior structures of the eye. Although a number of genes have been …

Background Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born
infants in the United States (US). PCG has a autosomal recessive inheritance pattern, and …

Genetic perturbations influencing early eye development can result in microphthalmia,
anophthalmia, and coloboma (MAC). Over 100 genes are associated with MAC, but little is …