Novel Insights into the Molecular Bases of Congenital Eye Abnormalities

Dear Colleagues,

The ability of the eye to carry out its basic visual function is dependent on its three-dimensional shape. Ocular morphogenesis is directed by a network of signaling pathways and highly conserved genes among vertebrates. Any disruption of these morphogenetic events by genetic or environmental influences can potentially cause ocular developmental defects. Congenital eye malformations are among the most common causes of childhood blindness and are generally associated with poor visual prognosis.

For many years, several groups including ours have focused all their efforts on research into these diseases, mainly of genetic origin with a high risk of recurrence in families. Despite some significant advances, especially due to sequencing technologies and bioinformatics tools that have substantially enhanced our ability to analyze and understand genomes and the relationship between genotype and phenotype, a large part of molecular and pathophysiological bases of these disorders are still largely unknown, yet they represent an indispensable prerequisite for developing therapeutic approaches. Significant efforts must be made since these malformations are relatively common in the general population worldwide.

The purpose of this Special Issue is to report on the recent insights achieved into the molecular bases of congenital eye abnormalities in humans as well as in other vertebrate species. In this Special Issue, original research articles and reviews are welcomed. Research areas may include (but are not limited to) the following: the functions of specific genes, new genes/variants/phenotypes, genome sequencing strategy, gene regulation genome organization, comparative genomics, RNA sequencing, expression profiling, molecular interaction, pathways, epigenomics, animal models, and organoids.

We look forward to receiving your contributions.

Dr. Julie Plaisancié
Dr. Lucas Fares-Taie
Dr. Marta Corton-Pérez
Guest Editors

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• genetics
• genome sequencing
• gene regulation
• pathways
• micro-anophthalmia
• coloboma
• anterior segment dysgenesis
• developmental eye disorders
• eye development
• animal model
• organoids