{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T17:05:16Z","timestamp":1768583116092,"version":"3.49.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007214","name":"Velux Stiftung","doi-asserted-by":"publisher","award":["1860"],"award-info":[{"award-number":["1860"]}],"id":[{"id":"10.13039\/100007214","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD\/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF\u2010containing fibulin\u2010like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the <jats:italic>EFEMP1<\/jats:italic> gene have also been demonstrated in several families with juvenile or adult\u2010onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD\/MLVT caused by a novel <jats:italic>EFEMP1<\/jats:italic> variant. Our results expand both the ocular phenotype associated with <jats:italic>EFEMP1<\/jats:italic> variants and the molecular spectrum causing DHRD by describing the first non\u2010p.Arg345Trp EFEMP1 pathogenic allele.<\/jats:p>","DOI":"10.1002\/ajmg.a.63869","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T14:37:10Z","timestamp":1726151830000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel <i>EFEMP1<\/i> Pathogenic Variant"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6274-6041","authenticated-orcid":false,"given":"Oscar F.","family":"Chacon\u2010Camacho","sequence":"first","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Laboratorio 5 Edificio A\u20104, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala Universidad Nacional Aut\u00f3noma de  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thania","family":"Ordaz\u2010Robles","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Department of Genetics Fundaci\u00f3n Hospital Nuestra Se\u00f1ora de la Luz  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion A.","family":"Cid\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivia","family":"Yepes\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Hospital del Ni\u00f1o Dr. Rodolfo Nieto Padr\u00f3n  Villahermosa Mexico"},{"name":"Instituto Oftavisi\u00f3n de Tulipan  Cunduacan Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocio","family":"Arce\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Mart\u00ednez\u2010Aguilar","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9716-8146","authenticated-orcid":false,"given":"Juan Carlos","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Biochemistry Department, Faculty of Medicine 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