Early-stage keratoconus in a case of oculodentodigital dysplasia.

Oculodentodigital dysplasia (ODDD) is a rare genetic disorder caused by mutations in the GJA1 gene, which encodes connexin 43 (Cx43). The condition presents with a broad phenotypic spectrum including ocular, dental, craniofacial, neurological, and skeletal abnormalities. We report the case of a 24-year-old female patient with genetically confirmed ODDD, carrying the c.226C > T (p.Arg76Cys) variant in the GJA1 gene, who presented with compatible clinical signs. Ophthalmologic evaluation revealed epicanthal folds, microcorneas, nystagmus, hyperprolate corneal profiles, and corneal topography consistent with incipient keratoconus, which may be attributed to functional alterations of Cx43. Close ophthalmologic follow-up is recommended in patients with ODDD to detect treatable visual complications that may significantly impact quality of life.