Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.

ABSTRACT:

Purpose

Occult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 (RP1L1) gene. The present study describes a novel RP1L1 variant, identified for the first time in two Italian sisters diagnosed with OMD, along with multimodal imaging features, including Optical Coherence Tomography (OCT) Angiography.

Methods

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.

SUBMITTER: Bianco L 

PROVIDER: S-EPMC9058645 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature