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This case report presents a 13-year-old girl with recurrent epithelial erosions beginning in 2015, with minimal or no trauma. Ophthalmic evaluation showed bilateral faint corneal opacities and prominent corneal innervation. Systemic findings included hypodontia and forearm/retroauricular hypopigmentation. Whole exome sequencing identified a homozygous LAMB3 variant likely disrupting mRNA splicing, confirmed by Sanger sequencing.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/ophthalmic-phenotype-associated-with-a-novel-mutation-in-lamb3-gene-linked-to-uncommon-intermediate-junctional-epidermolysis-bullosa/432158/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/ophthalmic-phenotype-associated-with-a-novel-mutation-in-lamb3-gene-linked-to-uncommon-intermediate-junctional-epidermolysis-bullosa/432158.png","ImageObject",300,407,{"name":92,"@type":93},"Dipper","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-02","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":39},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What ocular findings were observed in the reported patient?","Question",{"text":112,"@type":113},"Bilateral faint corneal opacities and prominent corneal innervation were found on ophthalmic examination.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What genetic variant was identified and how was it validated?",{"text":117,"@type":113},"Whole exome sequencing revealed a homozygous c.2137+2T > G variant in LAMB3, and Sanger sequencing confirmed the result.",{"name":119,"@type":110,"acceptedAnswer":120},"How did the mutation relate to the clinical diagnosis and counseling?",{"text":121,"@type":113},"The ocular, dental, and dermal findings supported epidermolysis bullosa, and identifying the novel LAMB3 variant expanded the JEB genotypic spectrum to support accurate diagnosis and genetic counseling.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},432158,1790740319,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":39,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":19,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":52,"preview_page_count":4},1374404997633,"https://ap-avatar.wpscdn.com/davatar_a8503ba1806abce46bf441b54a3ca4cd","American Journal of Ophthalmology Case Reports 41 (2026) 102498  \nContents lists available at ScienceDirect  \nAmerican Journal of Ophthalmology Case Reports  \njournal [homepage:](homepage: www.ajocasereports.com/)[ www.ajocasereports.com/](homepage: www.ajocasereports.com/)  \n| Ophthalmic phenotype associated with a novel mutation in LAMB3 gene linked to uncommon Intermediate Junctional Epidermolysis Bullosa\u003Cbr>Khawlah A. Alzaben a , Amani Albakrib, Rawan S. Alshabeebc, Naif Almontashirid, Khaled K. Abu-Amerod, Nouf A. Alzendie,*\u003Cbr>a Oculoplastic and Orbit Division, King Khaled Eye Specialist Hospital & Research Center, Riyadh, Saudi Arabia\u003Cbr>b Pediatric and strabismus Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia c Anterior Segment Division, King Khaled Eye Specialist Hospital & Research Center, Riyadh, Saudi Arabia d Research Dept. King Khaled Eye Specialist Hospital & Research Center, Riyadh, Saudi Arabia e Glaucoma Division, King Khaled Eye Specialist Hospital & Research Center, Riyadh, Saudi Arabia |  |  |\n| --- | --- | --- |\n| A R T I C L E I N F O |  | A B S T R A C T |\n| Keywords:\u003Cbr>Syndromic intermediate junctionalepidermolysis bullosa\u003Cbr>Blistering\u003Cbr>Dental caries\u003Cbr>Hypodontia\u003Cbr>Recurrent epithelial erosions LAMB3 |  | Background: Intermediate Junctional Epidermolysis Bullosa (JEB) is an extremely rare condition, with an incidence of slightly more than two per million live births. Patients with Epidermolysis Bullosa are classified using the “onion skinning” approach, which includes the major EB type, phenotypic characteristics, inheritance mode, targeted protein and its skin expression, gene involved, mutation types, and specific mutation(s) and location. This facilitates recognition of syndromic EB and aids in genetic counseling.\u003Cbr>Purpose: To report a patient with Intermediate JEB, perform a detailed ophthalmic evaluation, and identify the genetic cause through testing.\u003Cbr>Results: A 13-year-old girl presented with recurrent epithelial erosions since 2015, with minimal or no trauma. Ophthalmic exam revealed bilateral faint corneal opacities and prominent corneal innervation. Systemic findings included hypodontia and hypopigmentation of the forearms and retroauricular region. Whole exome sequencing revealed a homozygous c.2137+2T > G variant in the LAMB3 gene, likely disrupting mRNA splicing by altering the donor splice site. This mutation is expected to cause a frameshift and dysfunctional protein product. It was confirmed by Sanger sequencing.\u003Cbr>Conclusion: The ocular, dental, and dermal findings support a diagnosis of EB, highlighting the importance of multidisciplinary evaluation. Identification of this novel LAMB3 variant expands the known genotypic spectrum of JEB and enhances understanding of its molecular basis. This contributes to accurate diagnosis and improved genetic counseling for affected families. |\n\n1. Introduction  \nIntermediate Junctional Epidermolysis Bullosa is a very rare disease with international studies estimating the total incidence of just over two per million live births.1 In 1886 the term epidermolysis bullosa was first proposed to described a broad group of inherited skin condition that presented with spontaneous or traumatic blistering and mechanical fragility of the skin and non-healing wounds.2 Third International Consensus Report on Diagnosis and Classification of Epidermolysis Bullosa (EB) in 2008 redefined the entity based on the ultrastructural level of the blister formation to four major types: Epidermolytic (EB simplex [EBS]), Lucidolytic (junctional EB [JEB]), and Dermolytic  \n(dystrophic EB [DEB]) and a mixed type (Kindler syndrome).3 Patients with Epidermolysis Bullosa are categorized using an “onion skinning”method. This involves classifying them based on the predominant EB type, phenotypic traits, mode of inheritance, targeted protein ‘ its expression in the skin, the associated gene, the type(s) of mutation, and, whenever feasible, specifying ","cbCaiolbcy48z1yf","https://ap.wps.com/l/cbCaiolbcy48z1yf","pdf",2157217,"English","# Article I n f o\n## Keywords\n## Abstract\n# Introduction\n# Case report","[{\"question\":\"What ocular findings were observed in the reported patient?\",\"answer\":\"Bilateral faint corneal opacities and prominent corneal innervation were found on ophthalmic examination.\"},{\"question\":\"What genetic variant was identified and how was it validated?\",\"answer\":\"Whole exome sequencing revealed a homozygous c.2137+2T \\u003e G variant in LAMB3, and Sanger sequencing confirmed the result.\"},{\"question\":\"How did the mutation relate to the clinical diagnosis and counseling?\",\"answer\":\"The ocular, dental, and dermal findings supported epidermolysis bullosa, and identifying the novel LAMB3 variant expanded the JEB genotypic spectrum to support accurate diagnosis and genetic counseling.\"}]","Ophthalmic phenotype associated with a novel mutation in LAMB3 gene linked to uncommon Intermediate Junctional Epidermolysis Bullosa | PDF",1790658323]