Hamideh Sabbaghi1,2, Narsis Daftarian3, Fatemeh Suri4, Mehraban Mirrahimi4, Sina Madani5, Abbas Sheikhtaheri6, Farid Khorrami7, Proshat Saviz6, Mohammad Zarei Nejad8, Ali Tivay8, Hossein Ali Shahriari9, Alireza Maleki9, Seyed Sajad Ahmadi9, Monireh Sargazi9, Frans P M Cremers10, Maryam Najafi10, Barbara Vona11,12, Thomas Haaf11, Paulina Bahena-Carbajal11, Afrooz Moghadasi4, Houra Naraghi4, Mehdi Yaseri13, Bahareh Kheiri4, Masoumeh Kalantarion4, Elham Sabbaghi14, Mahtab Salami2, Laleh Pazooki2, Kazem Zendedel15,16, Shahnaz Mojarrab15, Hamid Ahmadieh4. 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.
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.
Authors: Sena A Gocuk; Yuanzhang Jiao; Alexis Ceecee Britten-Jones; Nathan M Kerr; Lyndell Lim; Simon Skalicky; Richard Stawell; Lauren N Ayton; Heather G Mack Journal: Clin Ophthalmol Date: 2022-04-13