Ophthalmıc fındıngs ın Joubert syndrome 25: A case report

Abstract

Joubert syndrome (JBTS; OMIM PS213300) is a rare autosomal recessive disease classified as a ciliopathy. The diagnosis of JBTS is based on three criteria: a characteristic brain imaging finding known as the “molar tooth sign,” hypotonia, and developmental delays. There is a well-defined ocular feature, including oculomotor apraxia, nystagmus, and strabismus. Retinal and optic nerve abnormalities have been reported. In a few cases where the genetic result is not specified, a papilledema-like appearance has been observed. To date, 35 mutations have been reported, with JBTS-25 being associated with the CEP104 gene. This report presents rare ocular findings in individuals with JBTS-25.