Publications by authors named "I Spiga"

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.

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Article Synopsis
  • * Diagnostic methods included EEG, brain MRI, metabolic screening, and clinical exome sequencing, revealing a likely pathogenic variant in the AIFM1 gene and significant functional impairment in mitochondrial protein production.
  • * The patient, who experienced severe seizures shortly after birth, showed some improvement by 6 months old without further decline, highlighting the unusual presentation and potential for varied outcomes in AIFM1-related conditions.
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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.

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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.

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Purpose: 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.

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