Mohamad Issa, Georges Sukkarieh, Sebastien Bruneau, Ramin Tadayoni
{"title":"A NOVEL RLBP1 GENE MUTATION ASSOCIATED WITH RETINAL FLECKS.","authors":"Mohamad Issa, Georges Sukkarieh, Sebastien Bruneau, Ramin Tadayoni","doi":"10.1097/ICB.0000000000001574","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study is to present an unusual fleck retina condition associated with a novel RLBP1 gene mutation.</p><p><strong>Methods/results: </strong>A 25-year-old male patient presented with flecks on fundoscopic examination. Clinical presentation, multimodal imaging, and electroretinography were compatible with the diagnosis of benign familial fleck retina. Genetic analysis detected an RLBP1 gene, a gene commonly associated with more severe retinal diseases.</p><p><strong>Conclusion: </strong>Flecked retina syndromes and other genetic retinal diseases have a complex genotype-phenotype relation and need further research for their pathophysiology to be fully understood.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"376-378"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Retinal Cases and Brief Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ICB.0000000000001574","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
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Abstract
Purpose: The aim of this study is to present an unusual fleck retina condition associated with a novel RLBP1 gene mutation.
Methods/results: A 25-year-old male patient presented with flecks on fundoscopic examination. Clinical presentation, multimodal imaging, and electroretinography were compatible with the diagnosis of benign familial fleck retina. Genetic analysis detected an RLBP1 gene, a gene commonly associated with more severe retinal diseases.
Conclusion: Flecked retina syndromes and other genetic retinal diseases have a complex genotype-phenotype relation and need further research for their pathophysiology to be fully understood.
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