Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy

Key Points

• The central aim is to explore how gain-of-function in BEST1 impacts myopia and photoreceptor structure.
• Analysis of the relationship between BEST1 function and myopia prevalence
• Assessment of photoreceptor layer thickness
• Measurement of outer segment length in photoreceptors
• Increased prevalence of myopia associated with gain-of-function
• Significant thinning of the photoreceptor layer
• Shortening of the outer segment in photoreceptors