{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["26"],"submitter":["Bianco L"],"pubmed_abstract":["<h4>Purpose</h4>Occult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 (<i>RP1L1</i>) gene. The present study describes a novel <i>RP1L1</i> variant, identified for the first time in two Italian sisters diagnosed with OMD, along with multimodal imaging features, including Optical Coherence Tomography (OCT) Angiography.<h4>Methods</h4>We performed multimodal imaging including spectral-domain OCT, blue light autofluorescence (BAF), infrared autofluorescence (IRAF), swept-source OCT Angiography (OCTA), full-field and multifocal electroretinography. Genetic analysis was performed using Next-Generation Sequencing. Pathogenic potential of nonsynonymous novel variants was scored with two in silico algorithms.<h4"],"journal":["American journal of ophthalmology case reports"],"pagination":["101550"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9058645"],"repository":["biostudies-literature"],"pubmed_title":["Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant."],"pmcid":["PMC9058645"],"pubmed_authors":["Bianco L","Arrigo A","Patricelli MG","Spiga I","Antropoli A","Carrera P","Bandello F","Battaglia Parodi M"],"additional_accession":[]},"is_claimable":false,"name":"Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.","description":"<h4>Purpose</h4>Occult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 (<i>RP1L1</i>) gene. The present study describes a novel <i>RP1L1</i> variant, identified for the first time in two Italian sisters diagnosed with OMD, along with multimodal imaging features, including Optical Coherence Tomography (OCT) Angiography.<h4>Methods</h4>We performed multimodal imaging including spectral-domain OCT, blue light autofluorescence (BAF), infrared autofluorescence (IRAF), swept-source OCT Angiography (OCTA), full-field and multifocal electroretinography. Genetic analysis was performed using Next-Generation Sequencing. Pathogenic potential of nonsynonymous novel variants was scored with two in silico algorithms.<h4","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jun","modification":"2025-04-18T12:12:22.338Z","creation":"2025-04-06T21:50:17.67Z"},"accession":"S-EPMC9058645","cross_references":{"pubmed":["35509282"],"doi":["10.1016/j.ajoc.2022.101550"]}}