Related Experiment Video
Updated: Jul 15, 2025
Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay
Esra Sahli1, Pinar Bingol Kiziltunc1, Aysun Idil1
1Department of Ophthalmology, Ankara University, Faculty of Medicine, Ankara, Türkiye.
Mutations in the CEP290 gene cause severe vision loss and neuromotor delays in children. Early genetic testing is crucial for diagnosis, management, and access to potential gene therapies.
Area of Science:
- Genetics
- Ophthalmology
- Neurology
Background:
- CEP290 gene mutations are linked to Joubert syndrome and retinal dystrophy (Leber's congenital amaurosis type 10).
- This condition causes severe congenital vision impairment, nystagmus, and oculodigital reflex.
Observation:
- Four children presented with poor eye contact and suspected low vision.
- Ophthalmological exams showed severe visual impairment, with slight improvement over time and evident enophthalmos.
- Neuromotor retardation was noted in their medical history.
Findings:
- Whole-exome analysis confirmed CEP290 gene mutations in all patients.
- The study highlights the association between severe vision loss and neuromotor retardation.
Implications:
- Pediatricians and ophthalmologists should consider genetic testing for suspected cases.
- Genetic diagnosis facilitates comprehensive patient care, rehabilitation, and family counseling.
- This aids in monitoring disease progression and exploring gene therapy options.
More Related Videos
09:16Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
