Back to Search
Start Over
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
- Source :
- British journal of ophthalmology, 106(5), 696-704. BMJ Publishing Group, British Journal of Ophthalmology. BMJ PUBLISHING GROUP, British Journal of Ophthalmology
- Publication Year :
- 2021
- Publisher :
- BMJ PUBLISHING GROUP, 2021.
-
Abstract
- AimTo investigate the natural history in a Belgian cohort of CRB1-associated retinal dystrophies.MethodsAn in-depth retrospective study focusing on visual function and retinal structure.ResultsForty patients from 35 families were included (ages: 2.5–80.1 years). In patients with a follow-up of >1 year (63%), the mean follow-up time was 12.0 years (range: 2.3–29.2 years). Based on the patient history, symptoms and/or electroretinography, 22 patients (55%) were diagnosed with retinitis pigmentosa (RP), 15 (38%) with Leber congenital amaurosis (LCA) and 3 (8%) with macular dystrophy (MD), the latter being associated with the p.(Ile167_Gly169del) mutation (in compound heterozygosity). MD later developed into a rod-cone dystrophy in one patient. Blindness at initial presentation was seen in the first decade of life in LCA, and in the fifth decade of life in RP. Eventually, 28 patients (70%) reached visual acuity-based blindness (ConclusionBi-allelic CRB1 mutations result in a range of progressive retinal disorders, most of which are generalised, with characteristically early macular involvement. Visual function and retinal structure analysis indicates a window for potential intervention with gene therapy before the fourth decade of life in RP and the first decade in LCA.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
retina
Retinal Disorder
Visual acuity
genetic structures
030105 genetics & heredity
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Retinitis pigmentosa
Medicine
Medical history
genetics
CRB1
business.industry
Retrospective cohort study
Macular dystrophy
medicine.disease
Sensory Systems
eye diseases
Ophthalmology
dystrophy
030221 ophthalmology & optometry
sense organs
medicine.symptom
business
Retinal Dystrophies
Subjects
Details
- Language :
- English
- ISSN :
- 00071161
- Database :
- OpenAIRE
- Journal :
- British journal of ophthalmology, 106(5), 696-704. BMJ Publishing Group, British Journal of Ophthalmology. BMJ PUBLISHING GROUP, British Journal of Ophthalmology
- Accession number :
- edsair.doi.dedup.....df59dcc2620d50d5e0a13fbd06aa2083