Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey.

This global survey explored the experiences of people with inherited retinal diseases (IRDs) and their families when trying to access genetic testing and counselling.

Among 410 respondents from over 30 countries, many faced significant delays and difficulties obtaining a genetic diagnosis. Around 57% waited more than three years, while 40% visited more than five doctors. Many also did not receive genetic counselling before or after testing, and some reported limited awareness or encouragement from eye care professionals.

Although most respondents did not have to pay for genetic services, access and support remained challenging.