September 5, 2025Open Access

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panels

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Authors

MMMara I MafteiUniversity College London LSLucas G.N. Spink OCOriol Gracia Carmona

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Implication

Research reveals updated gene panel increases pathogenic variant detection in anophthalmia and microphthalmia, suggesting improved genetic counseling.

Key Points

Identified pathogenic or likely pathogenic variants in 12.1% of anophthalmia and microphthalmia patients using advanced bioinformatics.
Updated gene panel linked 124 genes to anophthalmia and microphthalmia, improving diagnostic yield compared to previous studies.
Systematic literature review confirmed MFRP, OTX2, PRSS56, and SOX2 as major contributors to anophthalmia and microphthalmia phenotypes.
Molecular diagnosis of anophthalmia and microphthalmia remains low, underscoring the need for further research in genetic aetiology.

Cite This Study

Maftei et al. (2025) studied this question.

synapsesocial.com/papers/68c238d2b210217d64779baa https://doi.org/10.1101/2025.08.26.25334245

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Implication

Research reveals updated gene panel increases pathogenic variant detection in anophthalmia and microphthalmia, suggesting improved genetic counseling.

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panels

Discussion

Member takes

Implication

Key Points

Cite This Study

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panels

Discussion

Member takes

Implication

Key Points

Cite This Study

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