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



Sabbaghi H1, 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
Authors
  1. Sabbaghi H1, 2
  2. Daftarian N3
  3. Suri F4
  4. Mirrahimi M4
  5. Madani S5
  6. Sheikhtaheri A6
  7. Khorrami F7
  8. Saviz P6
  9. Nejad MZ8
  10. Tivay A8
  11. Shahriari HA9
  12. Maleki A9
  13. Ahmadi SS9
  14. Sargazi M9
  15. Cremers FPM10
  16. Najafi M10
  17. Vona B11, 12
  18. Haaf T11
  19. Bahenacarbajal P11
  20. Moghadasi A4
  21. Naraghi H4
  22. Yaseri M13
  23. Kheiri B4
  24. Kalantarion M4
  25. Sabbaghi E14
  26. Salami M2
  27. Pazooki L2
  28. Zendedel K15, 16
  29. Mojarrab S15
  30. Ahmadieh H4
Show Affiliations
Authors Affiliations
  1. 1. Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Department of Optometry, School of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Department of Information Technology Integration, Vanderbilit University Medical Center, Nashville, TN, United States
  6. 6. Health Management and Economics Research Center, School of Health Management and Information Sciences, Iran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Health Information Technology, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
  8. 8. New Technologies Research Center, Amirkabir University of Technology, Tehran, Iran
  9. 9. Al-Zahra Eye Centre, Zahedan University of Medical Sciences, Zahedan, Iran
  10. 10. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands
  11. 11. Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany
  12. 12. Department of Otolaryngology-Head and Neck Surgery, Tuebingen Hearing Research Centre, University of Tuebingen, Tuebingen, Germany
  13. 13. Department of Epidemiology and Biostatistics, Tehran University of Medical Sciences, Tehran, Iran
  14. 14. Department of Electrical and Computer Engineering, Graduate University of Advanced Technology, Kerman, Iran
  15. 15. Deputy of Research and Technology, Ministry of Health and Medical Education, Tehran, Iran
  16. 16. Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran

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.