Ophthalmıc fındıngs ın Joubert syndrome 25: A case report-Reference-Cited by-同舟云学术

Ophthalmıc fındıngs ın Joubert syndrome 25: A case report

Published:2024-04 Issue:2 Volume:4 Page:432-434
ISSN:2772-3070
Container-title:Indian Journal of Ophthalmology - Case Reports
language:en
Short-container-title:

Author:

Ogreden Tulin Aras¹,Büyüktiyaki Mehmet²

Affiliation:

1. Department of Ophthalmology, Medipol University, Hospital, Istanbul, Turkey

2. Department of Neonatology, Medipol University, Hospital, Istanbul, Turkey

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.

Publisher

Medknow

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