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Review

Anterior segment dysgenesis: part II—genetics and pathogenesis

& ORCID Icon
Pages 187-199 | Received 12 Jun 2023, Accepted 28 Feb 2024, Published online: 05 Mar 2024

Figures & data

Figure 1. Eye development.

The neural epithelilal-derived optic cup (purple) is an extension from the anterior diencephalon to interact with the overlying surface ectoderm (yellow). The optic fissure (dark purple) is on the inferomedial aspect of the optic cup. The hyaloid vasculature (red) is transmitted through the fissure and surrounds the lens that has separated from surface ectoderm. Neural crest (green) cells from the periocular mesenchyme migrate into the anterior segment via the optic fissure and between the hinge of the cup and the surface ectoderm. Genes, in which variants are associated with ASD, are expressed in the optic cup (PAX6, SOX2, HCCS), neural crest cells (PITX2, FOXC1, COL4A1, CPAMD8, TFAP2A, RARB, CYP1B1, TEK), lens (FOXE3, PXDN, PITX3, ADAMTS17) and the surface ectoderm (CHDRL1, PAX6, PXDN).
Figure 1. Eye development.