Hamideh Sabbaghi
1,2 
, Narsis Daftarian
3, Fatemeh Suri
4, Mehraban Mirrahimi
4, Sina Madani
5, Abbas Sheikhtaheri
6, Farid Khorrami
7, Proshat Saviz
6, Mohammad Zarei Nejad
8, Ali Tivay
8, Hossein Ali Shahriari
9, Alireza Maleki
9, Seyed Sajad Ahmadi
9, Monireh Sargazi
9, Frans P.M. Cremers
10, Maryam Najafi
10, Barbara Vona
11,12, Thomas Haaf
11, Paulina Bahena-Carbajal
11, Afrooz Moghadasi
4, Houra Naraghi
4, Mehdi Yaseri
13, Bahareh Kheiri
4, Masoumeh Kalantarion
4, Elham Sabbaghi
14, Mahtab Salami
2, Laleh Pazooki
2, Kazem Zendedel
15,16, Shahnaz Mojarrab
15, Hamid Ahmadieh
4* 1 Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Department of Optometry, School of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4 Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5 Department of Information Technology Integration, Vanderbilit University Medical Center, Nashville, TN, USA
6 Health Management and Economics Research Center, School of Health Management and Information Sciences, Iran University of Medical Sciences, Tehran, Iran
7 Department of Health Information Technology, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
8 New Technologies Research Center, Amirkabir University of Technology, Tehran, Iran
9 Al-Zahra Eye Centre, Zahedan University of Medical Sciences, Zahedan, Iran
10 Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
11 Institute of Human Genetics, University of Würzburg, Würzburg, Germany
12 Department of Otolaryngology—Head and Neck Surgery, Tuebingen Hearing Research Centre, University of Tuebingen, Tuebingen, Germany
13 Department of Epidemiology and Biostatistics, Tehran University of Medical Sciences, Tehran, Iran
14 Department of Electrical and Computer Engineering, Graduate University of Advanced Technology, Kerman, Iran
15 Deputy of Research and Technology, Ministry of Health and Medical Education, Tehran, Iran
16 Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran
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.