Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia

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Discussion

Genome-wide association study shows links between foveal morphology and foveal hypoplasia, suggesting genetic pathways involved.

Genome-wide association study identified 126 sentinel variants linked to foveal morphology, enhancing understanding of foveal hypoplasia.
Among the identified variants, 47 are novel associations that redefine genetic insights into foveal development and pathology.
Integrative mapping indicated 129 putative causal genes related to foveal biology, shedding light on underlying genetic contributions to macular disorders.
Rare-variant association study highlighted significant missense variants linked to foveal hypoplasia features, supporting further exploration of genetic mechanisms.

Hunt et al. (2025) studied this question.

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