{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:40:39Z","timestamp":1780504839724,"version":"3.54.1"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T00:00:00Z","timestamp":1615334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007290","name":"Det Obelske Familiefond","doi-asserted-by":"publisher","award":["27915"],"award-info":[{"award-number":["27915"]}],"id":[{"id":"10.13039\/501100007290","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Doyne honeycomb retinal dystrophy (DHRD)\/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb\u2010like pattern. Debut of vision loss often occurs in early to mid\u2010adulthood, and the degree varies. A single variant in <jats:italic>EFEMP1<\/jats:italic>: c.1033C&gt;T (R345W) has been identified as the cause in all cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Following DNA isolation, exome sequencing was performed in seven genes associated with flecked retina. Direct sequencing was used for variant verification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report the first Scandinavian case of molecular genetically verified DHRD\/ML: a 57\u2010year\u2010old woman debuting with vision loss and metamorphopsia. On both eyes, ophthalmological findings included massive hard drusen in the macular region and nasal to the optic disc as well as macular hyperpigmentation. Secondary choroidal neovascularizations were identified on both eyes, and anti\u2010vascular endothelial growth factor was administered, without effect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Molecular genetic investigation revealed heterozygosity for the known pathogenic missense variant in <jats:italic>EFEMP1<\/jats:italic>: c.1033C&gt;T (R345W) previously reported in relation to DHRD\/ML. Family history revealed no other cases of similar visual impairment suggesting a de novo mutation. Furthermore, there was no correlation between the unique DHRD\/ML haplotypes reported in the literature and our patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1652","type":"journal-article","created":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T14:42:34Z","timestamp":1615387354000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese\/autosomal dominant drusen) in Scandinavia"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5408-8701","authenticated-orcid":false,"given":"Inger Norlyk","family":"Sheyanth","sequence":"first","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Clinical Genetics Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ihab Bishara","family":"Lolas","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Molecular Diagnostics Department of Clinical Biochemistry Aalborg University Hospital Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Okkels","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Molecular Diagnostics Department of Clinical Biochemistry Aalborg University Hospital Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ligor Pradeep","family":"Kiruparajan","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg Denmark"},{"name":"Department 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