{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T07:01:27Z","timestamp":1776322887624,"version":"3.50.1"},"reference-count":47,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To analyse the spectrum of clinical features and molecular genetic data in a series of patients carrying likely disease\u2010associated variants in the <jats:italic>BEST1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective observational analysis of clinical data extracted from the medical records of visual function, multimodal imaging and electrophysiology of 62 eyes of 31 patients. Molecular genetic analysis was performed by means of panel\u2010based NGS or Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The spectrum of variants in the <jats:italic>BEST1<\/jats:italic> gene comprised 19 different variants and three of which are novel. Fundus photographs and OCT images allowed categorization of 52 eyes as Best vitelliform macular dystrophy (BVMD) with stages 1 to 5 and 10 eyes with autosomal recessive bestrophinopathy (ARB), with more severe phenotype. One patient was shown to be heterozygous for a variant, which has so far been described only in ARB, but this patient had the BVMD phenotype. There was no significant progression of the visual acuity during the follow\u2010up period of 5\u2009years both in BVMD and ARB. The most prevalent pattern of fundus autofluorescence (FAF) in BVMD was \u2018patchy\u2019. There were diverse visual field defects in static automated perimetry (SAP) depending on the stage. The Arden ratio was significantly lower in ARB patients and in eyes with stage 5 of BVMD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The genotype does not always predict the phenotype in patients with BVMD and ARB; however, having two mutations in the <jats:italic>BEST1<\/jats:italic> gene causes a more severe phenotype. FAF helped to distinguish ARB from BVMD. Most of the observed eyes did not progress functionally during the follow\u2010up. ARB and the atrophic stage of BVMD as the disease end\u2010stage had the worst visual functions and EOG results.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.14958","type":"journal-article","created":{"date-parts":[[2021,7,30]],"date-time":"2021-07-30T06:55:16Z","timestamp":1627628116000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Disease expression caused by different variants in the <i>BEST1<\/i> gene: genotype and phenotype findings in bestrophinopathies"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5805-8761","authenticated-orcid":false,"given":"Katarzyna","family":"Nowomiejska","sequence":"first","affiliation":[{"name":"Chair and Department of General and Pediatric Ophthalmology Medical University of Lublin  Lublin Poland"},{"name":"Institute for Ophthalmic Research Center for Ophthalmology University of T\u00fcbingen  T\u00fcbingen 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