Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent
a continuum of structural developmental eye defects. In severe bilateral cases …

Neural crest cells (NCCs) are vertebrate‐specific transient, multipotent, migratory stem cells
that play a crucial role in many aspects of embryonic development. These cells emerge from …

Purpose To develop a comprehensive next-generation sequencing panel assay that
screens genes known to cause developmental eye disorders and inherited eye disease and …

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 …

Vitamin A must be adequately distributed within the body to maintain the functions of
retinoids in the periphery and chromophore production in the eyes. Blood transport of 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 …

Childhood blindness has an adverse effect on growth, development, social, and economic
opportunities. Severe visual impairment (SVI) and blindness in infants must be detected as …

Overall, approximately one‐quarter of patients with genetic eye diseases will receive a
molecular diagnosis. Patients with developmental eye disorders face a number of diagnostic …

Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be
identified from birth. This congenital anomaly is thought to be caused by maldevelopment of …

Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined
as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous …