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February 1, 2026Journal of American Association for Pediatric Ophthalmology and Strabismus

Anterior megalophthalmos associated with CPAMD8 mutation: a case report

Laura Ninet Mathilde Minot Victor Morel Florence Dupessey Isabelle Rendu Daniele Denis Thierry David Aurore Aziz

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Key Points

Anterior megalophthalmos was observed, marking a significant ocular abnormality linked to genetic factors.
Genetic analysis identified a mutation in the CPAMD8 gene, highlighting its role in ocular development.
Detailed examination assessed the anterior segment of the eye, providing insights into ocular structural changes.
This finding suggests further investigation into the genetic basis of megalophthalmos may be necessary for better understanding.

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Implication

Case report reveals anterior megalophthalmos linked to CPAMD8 mutation, suggesting genetic implications.

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Cite This Study

Ninet et al. (2026) studied this question.

synapsesocial.com/papers/69a7671bbadf0bb9e87dfa51 https://doi.org/10.1016/j.jaapos.2026.104754

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