ISSN: 2459-1777 | E-ISSN 2587-0394
Volume : 9 Issue : 4 Year : 2024
A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay [Beyoglu Eye J]
Beyoglu Eye J. 2023; 8(3): 226-232 | DOI: 10.14744/bej.2023.37233

A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay

Esra Şahlı, Pinar Bingol Kiziltunc, Aysun İdil
Department of Ophthalmology, Ankara University, Faculty of Medicine, Ankara, Türkiye

Mutations in CEP290, which encodes a centrosomal protein, cause Joubert syndrome, retinal dystrophy, and several other manifestations. Retinal dystrophy related to CEP290 mutation (Leber’s congenital amaurosis type 10) presents with a severe visual impairment from birth, wandering eye movements, and oculodigital reflex. Fundus examination may initially be normal, but varying degrees of retinal pigmentation can be detected over time. This report presents 4 children who were referred to the ophthalmology clinic with a lack of eye contact and the suspicion of low vision. The ophthalmological examination revealed very poor visual function, the vision slightly improved over time, and enophthalmos became evident. There was neuromotor retardation in their history and mutations in the CEP290 gene were revealed in the whole-exome analysis. Both pediatricians and ophthalmologists should be aware of the coincidence between severe vision loss and neuromotor retardation and should refer patients for genetic testing if they suspect it. Genetic diagnosis will enable pa-tients to be followed both neurologically and ophthalmologically and to benefit from rehabilitation opportunities that will contribute to visual and neurological development. It will also allow the family to receive genetic counseling on disease progression and heredity, and to follow ongoing gene therapy studies for mutations in the relevant gene.

Keywords: CEP290 mutation, Joubert syndrome, Leber’s congenital amaurosis, low vision

Corresponding Author: Esra Şahlı, Türkiye
Manuscript Language: English
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