Research Protocol: Designing and Establishment of the First Inherited Retinal Dystrophy Registry in Iran

Purpose: To describe the protocol and the first report of the national Inherited Retinal Dystrophy Registry (IRDR) establishment in Iran. Methods: This study is a community-based participatory research that was approved by the Ministry of Health and Education of Iran in 2016. To provide the minimum data set (MDS), several focus group meetings were held with participation of the faculty members of the Ophthalmic Research Center affiliated to Shahid Beheshti University of Medical Sciences (SBMU). Final MDS was presented to the software engineering team to develop a web-based software. In the pilot phase, software was set up in two referral centers including Labbafinejad Medical Center (Tehran) and Alzahra Eye Hospital (Zahedan). Afterwards, the national collaborative phase was started at 10 eye research centers. Final diagnosis is made based on both clinical manifestations as well as genetic findings and recorded based on the four international standard coding systems. The steering committee meetings are held each year with the presence of delegates of all centers. Results: Data have been entered into the web-based software by trained technicians since February 2016. Up to now, a total of 1000 patients with the diagnosis of IRD have been registered by the participants, including Ophthalmic Research Center of SBMU, Gilan, Zahedan, Mashhad and Yazd Eye Centers. About half of the registered patients had a diagnosis of retinitis pigmentosa (RP), followed by cone-rod dystrophy (13.3%), Leber s congenital amaurosis (10.2%) and Usher syndrome (7.4%). Definite diagnosis was confirmed by genetic testing in 10% of the registered patients. Conclusion: Our study as a proof of concept model of the first IRD registry showing successful web-based software design and data collection. These data will help the researchers to have deep understanding of the distribution and genetic patterns of this complicated retinal disease in Iran for future prophylactic and therapeutic strategies