Prevalence of inherited retinal diseases in a large Egyptian cohort

BMC Ophthalmology

Research

Caroline Atef Tawfik¹  Maged Maher Roshdy²  Nancy Magdy Morris² 

[1] Faculty of Medicine, Ain Shams University, 38 Abbasseya, Nour Mosque, El-Mohamady, Al Waili, 11566, Cairo, Egypt;Faculty of Medicine, Ain Shams University, 38 Abbasseya, Nour Mosque, El-Mohamady, Al Waili, 11566, Cairo, Egypt;Watany Eye Hospital, Cairo, Egypt;

关键词: Autosomal recessive bestrophinopathy;    Cone-rod dystrophy;    Egypt;    Inherited retinal diseases;    Prevalence;    Retinitis pigmentosa;    Stargardt disease;    Usher syndrome;   

DOI  :  10.1186/s12886-023-03163-1

 received in 2022-11-28, accepted in 2023-10-03,  发布年份 2023

来源: Springer

【 摘 要 】

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.PurposeTo 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.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

【 图 表 】

12951_2016_246_Article_IEq8.gif