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Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Summary
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500. About 20-30% of these cases are syndromic, most notably Usher syndrome (USH), which combines hearing loss with visual impairment. Usher syndrome type 1 (USH1), the most severe form, presents at birth with profound sensorineural hearing loss, vestibular areflexia, and early-onset retinal degeneration. Biallelic mutations in the MYO7A gene, which define the USH1B subtype, account for 70% of USH1 cases. There is currently no treatment available for this serious condition. The objective of the study is to characterize the natural history of retinal degeneration in USH1B patients and to validate functional vision tests using virtual reality and patient-reported outcome questionnaires.
Official title: Natural History of Photoreceptor Degeneration Related to USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Key Details
Gender
All
Age Range
3 Years - 75 Years
Study Type
OBSERVATIONAL
Enrollment
60
Start Date
2025-10-13
Completion Date
2032-09
Last Updated
2026-02-10
Healthy Volunteers
No
Conditions
Interventions
Vision tests
Standardized assessments of visual function including best corrected visual acuity (BCVA), low vision acuity (BRVT), low luminance visual acuity (LLVA), color and contrast sensitivity tests, visual field measurements, and electroretinography (ERG) to evaluate retinal function.
Retinal imaging
Advanced imaging techniques such as optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT angiography (OCT-A) are used to visualize retinal structure and detect abnormalities.
Questionnaires
Patient-reported outcome measures including the Michigan Vision-Related Anxiety Questionnaire (MAVQ) and the Michigan Retinal Degeneration Questionnaire (MRDQ) assess the psychological and quality-of-life impacts of retinal degeneration.
Streetlab performance tests
Virtual reality-based functional tests evaluating mobility (MOST-VR) and visual search performance (VR-ViSA) to assess real-world vision-related abilities.
Locations (1)
Centre National d'Ophtalmologie des Quinze-Vingts
Paris, Île-de-France Region, France