⌘+K

Pulse Explore Communities Researchers Journals

Home Communities Explore

April 16, 2026Ophthalmic Genetics

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

Roselind L. Ni Rebecca Procopio Ezann Siebert Jennifer A Thompson Tina M. Lamey Terri L. McLaren Fred K. Chen Jose S. Pulido

View at Publisher

Ask AI

Bookmark

Share

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

Implication

Reveals that gain-of-function in ADVIRC increases myopia prevalence and affects photoreceptors.

Abstract

This study found that gain-of-function in ADVIRC may cause increased prevalence of myopia, PR layer thinning, and outer segment shortening.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Ni et al. (2026) studied this question.

synapsesocial.com/papers/69e470e9010ef96374d8dab8 https://doi.org/10.1080/13816810.2026.2635605

View at Publisher

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in <i>BEST1</i>2024 · 5 citations
2A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathyOriginal Research · 2025 · 1 citations
3Central retinal vein occlusion in <i>BEST1</i> -related angle-closure glaucoma in autosomal recessive bestrophinopathy: a case reportCase Report · 2026
4Clinical and genetic characterization of <scp>BEST1</scp> ‐associated retinal dystrophies in the Norwegian populationOriginal Research · 2026
5An Overview of Best Disease2024 · 1 citations

More related papers

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization2026
The “Best” masquerader2024
Disease mechanisms revealed in the P23H opsin knock-in mouse model of retinitis pigmentosa2026

More from Ophthalmic Genetics

Co-occurrence of retinoblastoma and oculocutaneous albinism in a Mexican patient: a case reportWed,
Geographic disparities in the distribution of ISGEDR-affiliated ocular genetics physicians relative to retinitis pigmentosa burdenWed,