Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy.
| Title: | Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy. |
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| Authors: | Ni RL; The Retina Service of Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Procopio R; The Retina Service of Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Siebert E; Lions Eye Institute, Nedlands, Western Australia, Australia.; Thompson JA; Australian Inherited Retinal Diseases Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; Lamey TM; Australian Inherited Retinal Diseases Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; McLaren TL; Australian Inherited Retinal Diseases Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.; Chen FK; Lions Eye Institute, Nedlands, Western Australia, Australia.; Australian Inherited Retinal Diseases Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.; Department of Surgery, University of Melbourne, East Melbourne, Victoria, Australia.; Pulido JS; The Retina Service of Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2026 Apr 16, pp. 1-12. Date of Electronic Publication: 2026 Apr 16. |
| Publication Model: | Ahead of Print |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Imprint Name(s): | Publication: London : Informa Healthcare; Original Publication: Buren, The Netherlands : Aeolus Press, c1994- |
| Abstract: | Purpose: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is associated with gain-of-function in bestrophin-1 instead of loss-of-function or dominant-negative mechanisms in other bestrophinopathies. We aimed to characterize photoreceptor (PR) changes in ADVIRC compared to Best vitelliform macular dystrophy (BVMD) and controls.; Methods: A retrospective case series of 8 ADVIRC, 10 BVMD, and 10 control eyes was conducted. Outer segment and PR layer (OPL/ONL junction to RPE) thicknesses were measured on horizontal optical-coherence-tomography line scans at -2.5 (nasal) to +2.5 (temporal) mm from the fovea and compared using the Kruskal-Wallis H test and Mann-Whitney U test.; Results: Median age of ADVIRC, BVMD, and control patients was 51.0, 38.0, and 50.0 years, respectively, visual acuity (logMAR) was 0.20, 0.02, and 0.00; axial length was 24.7, 23.6, and 23.7 mm; and spherical refraction was -0.63, 0.00, and 0.00 diopters, respectively. The ADVIRC outer segment layer was significantly thinner than BVMD eyes at all locations from the fovea, and the ADVIRC PR layer was significantly thinner than BVMD and control eyes at perifoveal locations. Systematic review of published ADVIRC cases showed increased prevalence of myopia vs. hyperopia.; Conclusion: This study found that gain-of-function in ADVIRC may cause increased prevalence of myopia, PR layer thinning, and outer segment shortening. |
| Contributed Indexing: | Keywords: Autosomal-dominant vitreoretinochoroidopathy; best vitelliform macular dystrophy; gain of function; photoreceptor; retinal pigment epithelium |
| Entry Date(s): | Date Created: 20260416 Latest Revision: 20260416 |
| Update Code: | 20260417 |
| DOI: | 10.1080/13816810.2026.2635605 |
| PMID: | 41991505 |
| Database: | MEDLINE |
Journal Article