Telegenetics for inherited retinal diseases in the COVID-19 environment

Al-Moujahed, Ahmad; Kumar, Aarushi; Chemudupati, Teja; Tsang, Stephen H.; Mahajan, Vinit B.

Inherited retinal diseases (IRDs) are visually debilitating conditions that affect families worldwide. They require extensive clinical testing, examination, and patient and family counseling, which are frequently accomplished over single-day extended clinic visits. However, the COVID-19 pandemic has limited the number of patients and staff allowed in clinics, leading to interruptions in care. We therefore developed telehealth management protocols for complete or hybrid virtual visits. The three main components of our telegenetics approach included reviewing the diagnostic tests results remotely, in-person or virtual video visits with a retina specialist, and virtual genetic testing using saliva kits. During the first 5 months of the program, telegenetic care was provided for 80 patients, including 3 international patients, and a spectrum of retinal dystrophies were diagnosed and managed. In conclusion, telegenetic virtual visits ensure continuity of care while reducing patient and provider exposure to SARS-CoV-2 and may continue and expand into other medical genetic conditions long after the pandemic.


  • thumnail for 40942_2021_Article_301.pdf 40942_2021_Article_301.pdf application/pdf 178 KB Download File

Also Published In

International Journal of Retina and Vitreous

More About This Work

Published Here
December 20, 2022


Telegenetics, COVID-19, Retina, Inherited retinal diseases, IRDs, Telemedicine