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Anterior megalophthalmos associated with CPAMD8 mutation: a case report | Synapse
March 3, 2026
Anterior megalophthalmos associated with CPAMD8 mutation: a case report
LN
Laura Ninet
MM
Mathilde Minot
VM
Victor Morel
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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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Ninet et al. (Sun,) studied this question.
synapsesocial.com/papers/69a7671bbadf0bb9e87dfa51
https://doi.org/https://doi.org/10.1016/j.jaapos.2026.104754