biostudies-literatureUnknown26Bianco L<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.<h4American journal of ophthalmology case reports101550https://www.ebi.ac.uk/biostudies/studies/S-EPMC9058645biostudies-literatureMultimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.PMC9058645Bianco LArrigo APatricelli MGSpiga IAntropoli ACarrera PBandello FBattaglia Parodi MfalseMultimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.<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.<h42022-01-01T00:00:00Z2022 Jun2025-04-18T12:12:22.338Z2025-04-06T21:50:17.67ZS-EPMC90586453550928210.1016/j.ajoc.2022.101550