Browsing by Author "Iannaccone, Alessandro"
Now showing items 1-13 of 13
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A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies.
(BMC ophthalmology, 2017-12-07)In this study, we examined audiovisual (AV) processing in normal and visually impaired individuals who exhibit partial loss of vision due to inherited retinal dystrophies (IRDs).Two groups were analyzed for this pilot study: ... -
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.
(Translational vision science & technology, 2020-06-03)Major advances in the study of inherited retinal diseases (IRDs) have placed efforts to develop treatments for these blinding conditions at the forefront of the emerging field of precision medicine. As a result, the growth ... -
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
(American journal of medical genetics. Part A, 2021-07-30)Sensorineural hearing loss (SNHL) is characteristic of Usher syndrome type 2 (USH2), but less is known about SNHL in nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) and olfaction in USH2A-associated retinal ... -
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
(American journal of ophthalmology, 2020-11)<h4>Purpose</h4>To report baseline visual fields in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) study.<h4>Design</h4>Cross-sectional study within a natural history study.<h4>Methods</h4>Setting: ... -
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
(Investigative ophthalmology & visual science, 2021-06)<h4>Purpose</h4>The purpose of this study was to characterize the phenotypic spectrum of ophthalmic findings in patients with Alagille syndrome.<h4>Methods</h4>We conducted a retrospective, observational, multicenter, study ... -
Choosing Outcome Measures and Assessing Efficacy of Therapeutic Interventions in Inherited Retinal Diseases: The Importance of Natural History Studies
(International Ophthalmology Clinics, 2021) -
Circulating Autoantibodies in Age-Related Macular Degeneration Recognize Human Macular Tissue Antigens Implicated in Autophagy, Immunomodulation, and Protection from Oxidative Stress and Apoptosis.
(PLoS One, 2015)BACKGROUND: We investigated sera from elderly subjects with and without age-related macular degeneration (AMD) for presence of autoantibodies (AAbs) against human macular antigens and characterized their identity. METHODS: ... -
Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.
(PloS one, 2019-01)Mutations in the RHO gene encoding for the visual pigment protein, rhodopsin, are among the most common cause of autosomal dominant retinitis pigmentosa (ADRP). Previous studies of ADRP mutations in different domains of ... -
Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps
(Translational Vision Science & Technology, 2018-07-18) -
Interspecies Correlations between Human and Mouse NR2E3-Associated Recessive Disease.
(Journal of clinical medicine, 2021-01-27)NR2E3-associated recessive disease in humans is historically defined by congenital night blinding retinopathy, characterized by an initial increase in short-wavelength (S)-cone sensitivity and progressive loss of rod and ... -
Murine Retinal Citrullination Declines With Age and is Mainly Dependent on Peptidyl Arginine Deiminase 4 (PAD4).
(Investigative ophthalmology & visual science, 2018-08)Citrullination is a post-translational modification (PTM) that serves many normal physiological functions. Studies have shown that this PTM-along with expression of the catalyzing enzymes, peptidyl arginine deiminases (PADs)-are ... -
Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration.
(Experimental eye research, 2017-02)We report on a novel autoantigen expressed in human macular tissues, identified following an initial Western blot (WB)-based screening of sera from subjects with age-related macular degeneration (AMD) for circulating ... -
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
(Translational vision science & technology, 2020-10-08)<h4>Purpose</h4>The purpose of this study was to evaluate baseline best corrected visual acuity (BCVA), full-field electroretinography (ERG), full-field stimulus thresholds (FST), and their relationship with baseline demographic ...
