Ocular Disorders and Treatments

Robust genetic analysis of the X-linked anophthalmic (Ie) mouse

This study identifies a critical genomic region on the X chromosome linked to anophthalmia in mice but finds no clear causative mutation, suggesting regulatory changes may underlie the phenotype.

Aniridia-related Keratopathy Relevant Cell Signaling Pathways in Human Fetal Corneas

The paper compares cell signaling pathways in human fetal and adult corneas, finding similarities to ARK corneas except for Notch1, suggesting a less differentiated host environment in ARK.

Nephronectin-Integrin α8 signaling is required for proper migration of periocular neural crest cells during chick corneal development

Anterior eye development in the brown anole, Anolis sagrei

This paper provides a detailed histological analysis of anterior eye development in the brown anole, Anolis sagrei, highlighting unique structural features compared to mammals and birds.

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

This study identifies a 4bp non-coding deletion in the FOXG1 locus at 14q12 as a candidate for isolated strabismus, showing its potential role in regulating FOXG1 expression.

Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye

This study identifies Nf2's role in regulating proliferation and tissue alignment during optic fissure closure in the mouse eye, showing that its loss causes coloboma due to RPE hyperproliferation and cytoskeletal disorganization.

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

This paper identifies TMEM98 as a regulator of eye size by inhibiting MYRF self-cleavage, leading to abnormal nuclear localization and activation of MYRF in the absence of TMEM98.

Loss of Corneal Raver2 Expression in Aniridia Associated Keratopathy

This study identifies Raver2 as a downstream factor of Pax6 in corneal development, showing its downregulation in aniridia-associated keratopathy in mice and humans.

The genetic and clinical landscape of nanophthalmos in an Australian cohort

The paper identifies genetic variants associated with nanophthalmos in an Australian cohort, linking them to clinical features like axial length and hyperopia.

Ontogenesis of the tear drainage system requires Prickle 1-controlled polarized basement membrane (BM) deposition

This study investigates the development of the tear drainage system in mice, identifying Prickle 1's role in regulating basement membrane deposition and revealing its independence from apicobasal polarity.

Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure

The paper shows that Mitf-family transcription factors are required in cranial neural crest cells to promote choroid fissure closure and that their absence causes colobomas.

Primary cilia deficiency in neural crest cells causes Anterior Segment Dysgenesis

This study shows that primary cilia deficiency in neural crest cells causes anterior segment dysgenesis by disrupting hedgehog signaling and key transcription factors.

Deletions of distant regulatory sequences upstream of zebrafish pitx2 result in a range of ocular phenotypes.

The paper studies deletions in the upstream regulatory region of zebrafish pitx2 and their effects on ocular development and DNA methylation.

Pax2a regulates angiogenesis to facilitate mmp2-dependent basement membrane remodeling of the optic fissure

The paper shows Pax2a regulates angiogenesis and basement membrane remodeling in the optic fissure by modulating Adamts1 and MMP2 expression in zebrafish.

Spatiotemporal characterization of periocular mesenchyme heterogeneity during anterior segment development

This study characterizes the heterogeneity of periocular mesenchyme during zebrafish anterior segment development using in vivo imaging and transcriptomic analysis.

Gclc deletion in surface-ectoderm tissues induces microphthalmia

This study shows that Gclc deletion in surface-ectoderm tissues causes microphthalmia in mice and zebrafish, indicating a conserved role in eye development.

notum1, acting downstream of pitx2, is essential for proper eye and craniofacial development.

The paper identifies NOTUM/notum1 as a downstream target of PITX2 essential for eye and craniofacial development in zebrafish, showing defects in its absence.

Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential and conserved mediator of epithelial fusion during vertebrate embryogenesis.

The paper analyzes chick optic fissure closure, identifying Netrin-1 as a conserved mediator of epithelial fusion essential for vertebrate development and linked to human coloboma.

Heterozygous missense RAD21 variant in a peripheral sclerocornea pedigree

The paper identifies a RAD21 variant in a family with sclerocornea, showing it cosegregates with the disease and reduces RAD21 cleavage.

FGF1 Promotes Xenopus laevis Lens Regeneration

This study shows FGF1 induces lens regeneration in Xenopus laevis corneas, while other FGFs do not, and FGFR inhibition reduces regeneration.

TGF(beta) Mediated Structural Remodeling Facilitates Optic Fissure Fusion And The Necessity Of BMP Antagonism In This Process

This study identifies TGF{beta} as essential for optic fissure fusion, with BMP antagonists preventing excessive BMP signaling to facilitate closure.

Optic Fissure Margin Morphogenesis Sets The Stage For Consecutive Optic Fissure Fusion, Pioneered By A Distinct Subset Of Margin Cells Using A Hyaloid Vessel As Scaffold

This study investigates optic fissure closure in zebrafish using 4D time-lapse analysis, revealing a mechanism involving tissue flow, pioneer cells, and EMT-like processes leading to epithelial fusion.