NDLI: Prevalence of inherited retinal diseases in a large Egyptian cohort

Content Provider	Springer Nature : BioMed Central
Author	Tawfik, Caroline Atef Roshdy, Maged Maher Morris, Nancy Magdy
Abstract	Background Inherited 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. Methods We 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. Results We 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%. Conclusion Retinitis 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.
Related Links	https://bmcophthalmol.biomedcentral.com/counter/pdf/10.1186/s12886-023-03163-1.pdf
Ending Page	8
Page Count	8
Starting Page	1
File Format	HTM / HTML
ISSN	14712415
DOI	10.1186/s12886-023-03163-1
Journal	BMC Ophthalmology
Issue Number	1
Volume Number	23
Language	English
Publisher	BioMed Central
Publisher Date	2023-10-20
Access Restriction	Open
Subject Keyword	Ophthalmology Autosomal recessive bestrophinopathy Cone-rod dystrophy Egypt Inherited retinal diseases Prevalence Retinitis pigmentosa Stargardt disease Usher syndrome
Content Type	Text
Resource Type	Article
Subject	Ophthalmology
Journal Impact Factor	1.7/2023
5-Year Journal Impact Factor	2/2023

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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