Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
Background Anophthalmia and microphthalmia are severe developmental ocular disorders
that affect the size of the ocular globe and can be unilateral or bilateral. The disease is found …
that affect the size of the ocular globe and can be unilateral or bilateral. The disease is found …
Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia
Genetic perturbations influencing early eye development can result in microphthalmia,
anophthalmia, and coloboma (MAC). Over 100 genes are associated with MAC, but little is …
anophthalmia, and coloboma (MAC). Over 100 genes are associated with MAC, but little is …
[HTML][HTML] Overexpression of Bmp4 induces microphthalmia by disrupting embryonic neural retina
Microphthalmia, mostly an autosomal dominant disorder, is a worldwide severe congenital
ocular malformation that causes visual impairment. Our investigation unveiled a total of 30 …
ocular malformation that causes visual impairment. Our investigation unveiled a total of 30 …
Insights into the FOXE3 Transcriptional Network and Disease Mechanisms from the Investigation of a Regulatory Variant Driving Complex Microphthalmia
J Plaisancie, C Angee, E Erjavec, I Raymond-Letron… - bioRxiv, 2025 - biorxiv.org
FOXE3 encodes a conserved, lens-specific transcription factor essential for eye
development. Biallelic mutations in FOXE3 lead to a spectrum of ocular anomalies, from …
development. Biallelic mutations in FOXE3 lead to a spectrum of ocular anomalies, from …