Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population

Erlend Sæther; Geir Bertelsen; Ragnheidur Bragadottir; Josephine Prener Holtan

doi:10.1111/aos.70065

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population

Acta Ophthalmol. 2026 Feb 2. doi: 10.1111/aos.70065. Online ahead of print.

Authors

Erlend Sæther¹, Geir Bertelsen^{1

2}, Ragnheidur Bragadottir^{3

4}, Josephine Prener Holtan^{3

4}

Affiliations

¹ Faculty of Health Sciences, The Arctic University of Norway, Tromsø, Norway.
² Department of Ophthalmology, University Hospital of Northern Norway, Tromsø, Norway.
³ Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.
⁴ Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

PMID: 41627933
DOI: 10.1111/aos.70065

Abstract

Purpose: BEST1 variants are the third leading cause of inherited retinal dystrophies in Norway. The purpose of this study was to describe the BEST1-associated retinal dystrophy (BEST1-RD) population genetically and clinically, and to determine the prevalence of BEST1-RD in Southern and Eastern Norway.

Methods: This registry-based study used the Oslo University Hospital Inherited Retinal Disease registry for genetic data and extracted clinical data from medical records.

Results: Sixty patients were included. The prevalence of BEST1-RD in Southern and Eastern Norway was between 1:64 600 and 1:43 700. Forty-one patients were diagnosed with Best's vitelliform macular dystrophy (BVMD), 15 with autosomal recessive bestrophinopathy (ARB) and 4 with autosomal dominant vitreoretinochoroidopathy (ADVIRC). The two most common genotypes were c.403G>A and c.89A>G. These variants were associated with BVMD and a later age of onset compared with other BVMD-associated genotypes.

Conclusion: The prevalence of BEST1-RD in Southern and Eastern Norway was between 1:64 600 and 1:43 700. BVMD patients carrying c.403G>A or c.89A>G had a later age of onset than BVMD patients carrying other variants.

Keywords: BEST1; BVMD; inherited retinal dystrophy; macular dystrophy.