{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T21:36:46Z","timestamp":1776721006678,"version":"3.51.2"},"reference-count":43,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T00:00:00Z","timestamp":1607385600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Molecular genetic testing of the BEST1 gene was conducted by the chain-terminating dideoxynucleotide Sanger methodology. Onset of symptoms (3 to 50 years of age) and best-corrected visual acuity (0.02\u20131.0) were highly variable. Ophthalmoscopic and retinal imaging defined five phenotypes. Phenotype I presented with single or confluent yellow lesions at the posterior pole and midperiphery, serous retinal detachment, and intraretinal cystoid spaces. In phenotype II fleck-like lesions were smaller and extended to the far periphery. Phenotype III showed a widespread continuous lesion with sharp peripheral demarcation. Single (phenotype IV) or multifocal (phenotype V) vitelliform macular dystrophy-like lesions were observed as well. Phenotypes varied within families and in two eyes of one patient. In addition, OCT detected hyperreflective foci (13\/36 eyes) and choroidal excavation (11\/36). Biallelic mutations were identified in each patient, six of which have not been reported so far [c.454C&gt;T\/p.(Pro152Ser), c.620T&gt;A\/p.(Leu207His), c.287_298del\/p.(Gln96_Asn99del), c.199_200del\/p.(Leu67Valfs*164), c.524del\/p.(Ser175Thrfs*19), c.590_615del\/p.(Leu197Profs*26)]. BEST1-associated ARB presents with a variable age of onset and clinical findings, that can be categorized in 5 clinical phenotypes. Hyperreflective foci and choroidal excavation frequently develop as secondary manifestations.<\/jats:p>","DOI":"10.3390\/ijms21249353","type":"journal-article","created":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T09:17:04Z","timestamp":1607419024000},"page":"9353","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3996-7844","authenticated-orcid":false,"given":"Karsten","family":"Hufendiek","sequence":"first","affiliation":[{"name":"Medizinische Hochschule Hannover, Universit\u00e4tsklinik f\u00fcr Augenheilkunde, Carl-Neuberg-Stra\u00dfe 1, 30625 Hannover, Germany"},{"name":"Klinik und Poliklinik f\u00fcr Augenheilkunde, Universit\u00e4tsklinikum Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1796-3976","authenticated-orcid":false,"given":"Katerina","family":"Hufendiek","sequence":"additional","affiliation":[{"name":"Medizinische Hochschule Hannover, Universit\u00e4tsklinik f\u00fcr Augenheilkunde, Carl-Neuberg-Stra\u00dfe 1, 30625 Hannover, Germany"},{"name":"Klinik und Poliklinik f\u00fcr Augenheilkunde, Universit\u00e4tsklinikum Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herbert","family":"J\u00e4gle","sequence":"additional","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Augenheilkunde, Universit\u00e4tsklinikum Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1508-0731","authenticated-orcid":false,"given":"Heidi","family":"St\u00f6hr","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4t Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5178-8673","authenticated-orcid":false,"given":"Marius","family":"Book","sequence":"additional","affiliation":[{"name":"Augenzentrum am St. Franziskus-Hospital, Hohenzollernring 74, 48145 M\u00fcnster, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg","family":"Spital","sequence":"additional","affiliation":[{"name":"Augenzentrum am St. Franziskus-Hospital, Hohenzollernring 74, 48145 M\u00fcnster, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcnay","family":"Rustambayova","sequence":"additional","affiliation":[{"name":"Zarifa Aliyeva National Ophthalmology Centre, 32\/15 Javadkhan Str., Baku AZ 1114, Azerbaijan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten","family":"Framme","sequence":"additional","affiliation":[{"name":"Medizinische Hochschule Hannover, Universit\u00e4tsklinik f\u00fcr Augenheilkunde, Carl-Neuberg-Stra\u00dfe 1, 30625 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-7723","authenticated-orcid":false,"given":"Bernhard H. F.","family":"Weber","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4t Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"},{"name":"Institut f\u00fcr Klinische Humangenetik, Universit\u00e4tsklinikum Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes B.","family":"Renner","sequence":"additional","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Augenheilkunde, Universit\u00e4tsklinikum Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"},{"name":"Augenarztpraxis Regensburg, Hoppestra\u00dfe 5, 93049 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5221-4631","authenticated-orcid":false,"given":"Ulrich","family":"Kellner","sequence":"additional","affiliation":[{"name":"Zentrum f\u00fcr Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"},{"name":"RetinaScience, Postfach 301212, 53192 Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/915","article-title":"Identification of the gene responsible for Best macular dystrophy","volume":"19","author":"Petrukhin","year":"1998","journal-title":"Nat. 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