Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients.
David Apam-Garduño, Cristina Villanueva-Mendoza, Carolina Prado-Larrea et al.
✦ AI-curated · Sources linked
Case in brief
Two unrelated Mexican patients with anterior segment dysgenesis had bilateral iris hypoplasia, ectropion uveae, zonular anomalies, and secondary childhood glaucoma. Whole-exome sequencing identified novel biallelic CPAMD8 variants: one patient had a homozygous c.367_388dup variant, while the other had compound heterozygous c.2276+1G>A and c.4478T>A variants. The report associated these findings with a CPAMD8-related ocular phenotype that includes developmental anterior segment abnormalities and childhood glaucoma.
What made this case unusual
The report documents this CPAMD8-associated phenotype in Mexican patients and identifies three novel variants across the two unrelated cases.
Diagnostic / clinical pearl
Consider CPAMD8 analysis in patients with anterior segment dysgenesis or secondary childhood glaucoma accompanied by non-acquired ocular anomalies such as iris hypoplasia or zonular abnormalities.