ArticlePLoS genetics2018
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 51 citations in OpenAlex.
- Atypical superotemporal iris and retinal coloboma.American journal of ophthalmology case reports · 2026Article
- Insights intoLife (Basel, Switzerland) · 2025Review
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.bioRxiv : the preprint server for biology · 2024Article
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.Frontiers in cellular neuroscience · 2024Article
- Role of Thyroid Hormone in Dynamic Variation ofInternational journal of molecular sciences · 2023Article
- Signaling - transcription interactions in mouse retinal ganglion cells early axon pathfinding -a literature review.Frontiers in ophthalmology · 2023Review
- Atypical superior iris and chorioretinal coloboma.Indian journal of ophthalmology · 2022Article
- Atypical and extensive combined irido-retinochoroidal coloboma with microcornea.BMJ case reports · 2022Article
- Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography.Veterinary ophthalmology · 2022Article
- Neuron-Specific Deletion ofFrontiers in genetics · 2022Article
- A Novel Human Long Noncoding RNA SCDAL Promotes Angiogenesis through SNF5-Mediated GDF6 Expression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2021Article
- Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.Human molecular genetics · 2020Article
- Importance of early detection of juvenile polyposis syndrome: A case report and literature review.Medicine · 2020Review
- Cercosporamide inhibits bone morphogenetic protein receptor type I kinase activity in zebrafish.Disease models & mechanisms · 2020Article
- A rare case of temporal atypical retinochoroidal coloboma associated with posterior embryotoxon.Indian journal of ophthalmology · 2020Article
- Hyaloid vasculature and mmp2 activity play a role during optic fissure fusion in zebrafish.Scientific reports · 2020Article
- Unusual superior iris and retinochoroidal coloboma.Indian journal of ophthalmology · 2020Article
- In Vivo Analysis of Optic Fissure Fusion in Zebrafish: Pioneer Cells, Basal Lamina, Hyaloid Vessels, and How Fissure Fusion is Affected by BMP.International journal of molecular sciences · 2020Article
- Abnormal Cone and Rod Photoreceptor Morphogenesis in gdf6a Mutant Zebrafish.Investigative ophthalmology & visual science · 2020Article
- The Ocular Neural Crest: Specification, Migration, and Then What?Frontiers in cell and developmental biology · 2020Review
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The eye primordium arises as a lateral outgrowth of the forebrain, with a transient fissure on the inferior side of the optic cup providing an entry point for developing blood vessels. Incomplete closure of the inferior ocular fissure results in coloboma, a disease characterized by gaps in the inferior eye and recognized as a significant cause of pediatric blindness. Here, we identify eight patients with defects in tissues of the superior eye, a congenital disorder that we term superior coloboma. The embryonic origin of superior coloboma could not be explained by conventional models of eye development, leading us to reanalyze morphogenesis of the dorsal eye. Our studies revealed the presence of the superior ocular sulcus (SOS), a transient division of the dorsal eye conserved across fish, chick, and mouse. Exome sequencing of superior coloboma patients identified rare variants in a Bone Morphogenetic Protein (Bmp) receptor (BMPR1A) and T-box transcription factor (TBX2). Consistent with this, we find sulcus closure defects in zebrafish lacking Bmp signaling or Tbx2b. In addition, loss of dorsal ocular Bmp is rescued by concomitant suppression of the ventral-specific Hedgehog pathway, arguing that sulcus closure is dependent on dorsal-ventral eye patterning cues. The superior ocular sulcus acts as a conduit for blood vessels, with altered sulcus closure resulting in inappropriate connections between the hyaloid and superficial vascular systems. Together, our findings explain the existence of superior coloboma, a congenital ocular anomaly resulting from aberrant morphogenesis of a developmental structure.
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