Usher syndrome patient reported outcomes
Reviewed by Ian Reekie

The authors present a systematic review of the literature on patient-reported outcomes in Usher syndrome; a leading cause of deaf-blindness. A total of 27 studies were included, and there was a strong bias towards studies from the US and Europe with only 3 studies performed outside of these regions. The studies were divided for analysis into quantitative (18 studies) and qualitative (9 studies) data. Of the quantitative studies, only 1 used a vision-specific patient reported outcome measure; the Michigan Retinal Degeneration Questionnaire. The included studies were principally concerned with documenting the symptoms and difficulties experienced by patients with Usher syndrome. A particularly interesting perspective was the reported pressure felt by Ushers patients to make significant life decisions earlier than they may have otherwise, due to the unpredictability of progression. Overall, this systematic review highlights a significant gap in the literature on patient-reported outcomes in Usher syndrome when considering visual symptoms. The only direct intervention studied in any of the publications included in this review was cochlear implant. It would be well worth investigating the impact of various visual assistive technologies on patients with Usher syndrome. The field of assistive technology is very rapidly advancing, with numerous options based around specially designed smartphones, apps and smart-glasses. Data on patient reported outcomes with the use of these technologies for patients with the additional challenge of deaf-blindness would be very welcome.

Patient reported outcomes in Usher Syndrome: a systematic review. 
Gao A, Miller T, Ballios BG. 
OPHTHALMIC GENETICS
2025;46(5):413–25.