The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study Publisher Pubmed



Sabbaghi H^{1, 2} ; Daftarian N³ ; Suri F⁴ ; Mirrahimi M⁴ ; Madani S⁵ ; Sheikhtaheri A⁶ ; Khorrami F⁷ ; Saviz P⁶ ; Nejad MZ⁸ ; Tivay A⁸ ; Shahriari HA⁹ ; Maleki A⁹ ; Ahmadi SS⁹ ; Sargazi M⁹ Show All Authors
Source: Archives of Iranian Medicine Published:2020

Abstract

Background: To describe the protocol for developing a national inherited retinal disease (IRD) registry in Iran and present its initial report. Methods: This community-based participatory research was approved by the Ministry of Health and Medical Education of Iran in 2016. To provide the minimum data set (MDS), several focus group meetings were held. The final MDS was handed over to an engineering team to develop a web-based software. In the pilot phase, the software was set up in two referral centers in Iran. Final IRD diagnosis was made based on clinical manifestations and genetic findings. Ultimately, patient registration was done based on all clinical and non-clinical manifestations. Results: Initially, a total of 151 data elements were approved with Delphi technique. The registry software went live at www.IRDReg.org based on DHIS2 open source license agreement since February 2016. So far, a total of 1001 patients have been registered with a mean age of 32.41±15.60 years (range, 3 months to 74 years). The majority of the registered patients had retinitis pigmentosa (42%, 95% CI: 38.9% to 45%). Genetic testing was done for approximately 20% of the registered individuals. Conclusion: Our study shows successful web-based software design and data collection as a proof of concept for the first IRD registry in Iran. Multicenter integration of the IRD registry in medical centers throughout the country is well underway as planned. These data will assist researchers to rapidly access information about the distribution and genetic patterns of this disease. © 2020 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons. org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.