Purpose: To report a case of multifocal vitelliform lesions in a patient affected by metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the m.3243A>G variant.
Observations: A 37-year-old woman affected by MELAS was referred to our center for progressive vision deterioration.
Ann Clin Transl Neurol
October 2023
Purpose: A broad spectrum of autosomal-dominant inherited retinal diseases (IRDs), ranging from mild macular pattern dystrophy to severe cone-rod degeneration, is associated with PRPH2 variants (peripherinopathies). We present detailed clinical and molecular characterization of patients affected by peripherinopathies, aiming to expand the mutational spectrum, and propose novel genotype-phenotype correlations.
Design: Observational, retrospective case series.
Mar Pollut Bull
December 2022
There is growing concern that the noise from human activities in water may impact the detection and production of sound by aquatic animals. Snapping shrimp are sound producing crustaceans and their sound has biological and ecological importance. This paper investigated the effects of pulsed stimuli upon the acoustic behavior of these animals.
View Article and Find Full Text PDFPurpose: Occult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 () gene. The present study describes a novel 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.