Anterior megalophthalmos associated with CPAMD8 mutation: a case report.

A 5-year-old girl was referred for bilateral iridodonesis. Clinical evaluation revealed an enlarged horizontal corneal diameter, a markedly deep anterior chamber, diffuse iris transillumination, and bilateral posterior subcapsular cataracts. Gonioscopic examination demonstrated angle dysgenesis with posterior embryotoxon. Ultrasound biomicroscopy confirmed the bilateral anterior segment clinical abnormalities. Axial length was within normal limits. Intraocular pressure remained within normal limits, and there was no evidence of juvenile glaucoma. A diagnosis of anterior megalophthalmos was established. Genetic analysis revealed a pathogenic mutation in the CPAMD8 gene, which is known to be associated with anterior segment dysgenesis. This case supports the mutation of CPAMD8 as a genetic contributor to this rare developmental anomaly.