ArticleBMC ophthalmology2023
Prevalence of inherited retinal diseases in a large Egyptian cohort.
Article in BMC ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients.Ophthalmology science · 2026Article
- Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.Frontiers in cell and developmental biology · 2026Article
- Natural course of refractive errors in early onset inherited retinal diseases.Eye (London, England) · 2025Article
- Clinical and Genetic Features of Autosomal Recessive Bestrophinopathy: A Case Series from a Vietnamese Cohort.Biomedicines · 2025Article
- Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.NPJ genomic medicine · 2025Article
- Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.Molecular vision · 2025Article
- Genetics of inherited retinal dystrophies - Global insights and the importance of Omani research.Oman journal of ophthalmologyArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited retinal diseases form a rare, highly heterogeneous group of genetic disorders characterized by retinal degeneration. It is considered one of the leading causes of debilitating visual loss and blindness in children and young adults. Despite this few population-based data studies on prevalence of inherited retinal diseases exist. Moreover, prevalence can vary widely depending on geographical area, population ethnicity and cultural habits. PURPOSE: To report the prevalence of different subtypes of Inherited retinal diseases in a large Egyptian cohort in a retrospective, hospital-based, cross-sectional study.
methodsWe conducted an extensive electronic medical record search for all the patients attending the outpatient clinic and investigation unit of Ain Shams University Hospital and the two branches of Watany Eye Hospital in the period between January 2015 and October 2022 aiming to identify the prevalence rate of different types of IRDs, patient demographics and stratify them according to their phenotype.
resultsWe examined the electronic medical records of 478 222 patients, 971 patients were diagnosed with IRD by clinical examination with or without any of the following investigations: color fundus photography, fundus autofluorescence, fundus fluorescein angiography, optical coherence tomography and/or electrophysiological studies as electroretinogram, visual evoked potential and electrooculogram. The overall prevalence was 0.2%. The most common IRD encountered was isolated retinitis pigmentosa with a percentage of 78.9% followed by Stargardt disease at 6.3%, cone-rod dystrophy at 2.0%, autosomal recessive bestrophinopathy at 1.9% and unspecified IRD at 1.5%.
conclusionRetinitis pigmentosa was the most common IRD encountered followed by Stargardt disease. Many of the dystrophies are the subject of clinical intervention trials, and population-based epidemiological data can guide phenotype-based genetic testing and help assess the future need for treatment.
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