A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
ABSTRACT 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 affe...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2025-01, Vol.197 (1), p.e63869-n/a |
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| creator | Chacon‐Camacho, Oscar F. Ordaz‐Robles, Thania Cid‐García, Marion A. Yepes‐Rodríguez, Olivia Arce‐González, Rocio Martínez‐Aguilar, Alan Zenteno, Juan Carlos |
| description | ABSTRACT
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‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele. |
| doi_str_mv | 10.1002/ajmg.a.63869 |
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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‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 1552-4833</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.63869</identifier><identifier>PMID: 39264138</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Alleles ; Corneal Dystrophies, Hereditary - genetics ; Corneal Dystrophies, Hereditary - pathology ; Doyne honeycomb retinal dystrophy ; EFEMP1 ; EFEMP1 gene ; Epithelium ; Extracellular matrix ; Extracellular Matrix Proteins - genetics ; Eye diseases ; Female ; Glaucoma ; Glaucoma - genetics ; Glaucoma - pathology ; Humans ; juvenile glaucoma ; malattia leventinese ; Male ; Matrix protein ; Mutation - genetics ; Mutation, Missense - genetics ; Optic Disk Drusen - congenital ; Pedigree ; Phenotype ; Phenotypes ; Retina ; Retinal degeneration ; Retinal Dystrophies - genetics ; Retinal Dystrophies - pathology ; Retinal pigment epithelium ; Retinal Pigment Epithelium - pathology</subject><ispartof>American journal of medical genetics. Part A, 2025-01, Vol.197 (1), p.e63869-n/a</ispartof><rights>2024 The Author(s). published by Wiley Periodicals LLC.</rights><rights>2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.</rights><rights>2024. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2899-55e6cb8c51ff84eb5ca4113f9932d2639539e410d489c2f13fd9863a2bcca5553</cites><orcidid>0000-0001-6274-6041 ; 0000-0002-9716-8146</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.63869$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.63869$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39264138$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chacon‐Camacho, Oscar F.</creatorcontrib><creatorcontrib>Ordaz‐Robles, Thania</creatorcontrib><creatorcontrib>Cid‐García, Marion A.</creatorcontrib><creatorcontrib>Yepes‐Rodríguez, Olivia</creatorcontrib><creatorcontrib>Arce‐González, Rocio</creatorcontrib><creatorcontrib>Martínez‐Aguilar, Alan</creatorcontrib><creatorcontrib>Zenteno, Juan Carlos</creatorcontrib><title>A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>ABSTRACT
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‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alleles</subject><subject>Corneal Dystrophies, Hereditary - genetics</subject><subject>Corneal Dystrophies, Hereditary - pathology</subject><subject>Doyne honeycomb retinal dystrophy</subject><subject>EFEMP1</subject><subject>EFEMP1 gene</subject><subject>Epithelium</subject><subject>Extracellular matrix</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Eye diseases</subject><subject>Female</subject><subject>Glaucoma</subject><subject>Glaucoma - genetics</subject><subject>Glaucoma - pathology</subject><subject>Humans</subject><subject>juvenile glaucoma</subject><subject>malattia leventinese</subject><subject>Male</subject><subject>Matrix protein</subject><subject>Mutation - genetics</subject><subject>Mutation, Missense - genetics</subject><subject>Optic Disk Drusen - congenital</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Retina</subject><subject>Retinal degeneration</subject><subject>Retinal Dystrophies - genetics</subject><subject>Retinal Dystrophies - pathology</subject><subject>Retinal pigment epithelium</subject><subject>Retinal Pigment Epithelium - pathology</subject><issn>1552-4825</issn><issn>1552-4833</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2025</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>EIF</sourceid><recordid>eNp9kU1v00AQQC0EoqVw44xG4lIkEvbTeI9RmqZUaRsh4GqN1-PEkb0bvHYr_xN-LhtSeuDAaVc7T281eknylrMpZ0x8wl27meI0lVlqniWnXGsxUZmUz5_uQp8kr0LYMSaZ_py-TE6kEaniMjtNfs3glh7gzg4NdrDekvP9uCeY-7aoXe02cD3ck6sbgmWDg_UtAroSLvzoCK68ozG-FfCV-tphAxdj6Du_345wfoMN9n2NsKJoiGMK9AHKgaD3gHDr76mBxeXiZs1hjf3Wb-I_Fn5gV6PrXycvKmwCvXk8z5Lvl4tv86vJ6m75ZT5bTazIjJloTaktMqt5VWWKCm1RcS4rY6QoRSqNloYUZ6XKjBVVnJQmSyWKwlrUWsuz5Pzo3Xf-50Chz9s6WGoadOSHkEvOpNJMZCqi7_9Bd37o4tYHSknBBNNppD4eKdv5EDqq8n1Xt9iNOWf5oVh-KJZj_qdYxN89SoeipfIJ_psoAuoIPMQI439l-ez6Zjk7en8DNrOiIQ</recordid><startdate>202501</startdate><enddate>202501</enddate><creator>Chacon‐Camacho, Oscar F.</creator><creator>Ordaz‐Robles, Thania</creator><creator>Cid‐García, Marion A.</creator><creator>Yepes‐Rodríguez, Olivia</creator><creator>Arce‐González, Rocio</creator><creator>Martínez‐Aguilar, Alan</creator><creator>Zenteno, Juan Carlos</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>24P</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6274-6041</orcidid><orcidid>https://orcid.org/0000-0002-9716-8146</orcidid></search><sort><creationdate>202501</creationdate><title>A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant</title><author>Chacon‐Camacho, Oscar F. ; Ordaz‐Robles, Thania ; Cid‐García, Marion A. ; Yepes‐Rodríguez, Olivia ; Arce‐González, Rocio ; Martínez‐Aguilar, Alan ; Zenteno, Juan Carlos</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2899-55e6cb8c51ff84eb5ca4113f9932d2639539e410d489c2f13fd9863a2bcca5553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2025</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alleles</topic><topic>Corneal Dystrophies, Hereditary - genetics</topic><topic>Corneal Dystrophies, Hereditary - pathology</topic><topic>Doyne honeycomb retinal dystrophy</topic><topic>EFEMP1</topic><topic>EFEMP1 gene</topic><topic>Epithelium</topic><topic>Extracellular matrix</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Eye diseases</topic><topic>Female</topic><topic>Glaucoma</topic><topic>Glaucoma - genetics</topic><topic>Glaucoma - pathology</topic><topic>Humans</topic><topic>juvenile glaucoma</topic><topic>malattia leventinese</topic><topic>Male</topic><topic>Matrix protein</topic><topic>Mutation - genetics</topic><topic>Mutation, Missense - genetics</topic><topic>Optic Disk Drusen - congenital</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Retina</topic><topic>Retinal degeneration</topic><topic>Retinal Dystrophies - genetics</topic><topic>Retinal Dystrophies - pathology</topic><topic>Retinal pigment epithelium</topic><topic>Retinal Pigment Epithelium - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chacon‐Camacho, Oscar F.</creatorcontrib><creatorcontrib>Ordaz‐Robles, Thania</creatorcontrib><creatorcontrib>Cid‐García, Marion A.</creatorcontrib><creatorcontrib>Yepes‐Rodríguez, Olivia</creatorcontrib><creatorcontrib>Arce‐González, Rocio</creatorcontrib><creatorcontrib>Martínez‐Aguilar, Alan</creatorcontrib><creatorcontrib>Zenteno, Juan Carlos</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chacon‐Camacho, Oscar F.</au><au>Ordaz‐Robles, Thania</au><au>Cid‐García, Marion A.</au><au>Yepes‐Rodríguez, Olivia</au><au>Arce‐González, Rocio</au><au>Martínez‐Aguilar, Alan</au><au>Zenteno, Juan Carlos</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2025-01</date><risdate>2025</risdate><volume>197</volume><issue>1</issue><spage>e63869</spage><epage>n/a</epage><pages>e63869-n/a</pages><issn>1552-4825</issn><issn>1552-4833</issn><eissn>1552-4833</eissn><abstract>ABSTRACT
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‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>39264138</pmid><doi>10.1002/ajmg.a.63869</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0001-6274-6041</orcidid><orcidid>https://orcid.org/0000-0002-9716-8146</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Alleles Corneal Dystrophies, Hereditary - genetics Corneal Dystrophies, Hereditary - pathology Doyne honeycomb retinal dystrophy EFEMP1 EFEMP1 gene Epithelium Extracellular matrix Extracellular Matrix Proteins - genetics Eye diseases Female Glaucoma Glaucoma - genetics Glaucoma - pathology Humans juvenile glaucoma malattia leventinese Male Matrix protein Mutation - genetics Mutation, Missense - genetics Optic Disk Drusen - congenital Pedigree Phenotype Phenotypes Retina Retinal degeneration Retinal Dystrophies - genetics Retinal Dystrophies - pathology Retinal pigment epithelium Retinal Pigment Epithelium - pathology |
| title | A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant |
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