Anterior segment dysgenesis
- Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse
Summary: Key pathogenic events in anterior segment dysgenesis, a congenital ocular disease with complex etiology, are recapitulated in a mouse model of Col4a1-related ASD.
- A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development
Summary: Conditional deletion of Tsc1 in the developing eye results in ciliary body and iris hypotrophy, demonstrating that aberrant mTORC1 signalling contributes to anterior segment dysgenesis (ASD).
- Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma
Summary: Tissue-specific deletion of transcription factor AP-2β in the neural-crest-derived periocular mesenchyme generates a novel model of anterior segment dysgenesis and early onset glaucoma in mice.