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Article

Novel ocular feature in oculoskeletodental syndrome: high axial myopia and megalocornea in a child with a homozygous PIK3C2A variant.

Ophthalmic genetics - 1 Aug 2026

Pawar Neelam, R Meenakshi, J Anupama, A Fathima, Lakshmi Sai, Kk Shafna

Abstract excerpt

BACKGROUND: Oculoskeletodental syndrome (OCSKD) is a rare autosomal recessive ciliopathy caused by PIK3C2A loss-of-function variants, characterized by ocular, skeletal, and dental anomalies. Ocular findings most commonly include cataract and secondary glaucoma; however, high axial myopia and megalocornea have not been previously reported in the literature. CASE PRESENTATION: We report a 2-year-old girl with OCSKD...

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Identifiers

PMID: 41703929
DOI: 10.1080/13816810.2026.2627545

Genes

PIK3C2A

Variants

Provenance

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