A5074977615- Retinal Development and Disorders
- Hearing, Cochlea, Tinnitus, Genetics
- Retinal Diseases and Treatments
- Retinal Imaging and Analysis
- Retinal and Macular Surgery
- Glaucoma and retinal disorders
- Livestock and Poultry Management
- Sharing Economy and Platforms
- Retinopathy of Prematurity Studies
- Congenital heart defects research
- Neural dynamics and brain function
- Neural Networks and Applications
- Retinal and Optic Conditions
- Vascular Malformations and Hemangiomas
- Advanced Memory and Neural Computing
- Environmental and Biological Research in Conflict Zones
- Animal Diversity and Health Studies
- Connexins and lens biology
- Vascular Anomalies and Treatments
- RNA regulation and disease
- Ophthalmology and Visual Impairment Studies
University of Campania "Luigi Vanvitelli"
2012-2021
University of Naples Federico II
2012-2016
University of Salerno
1992
To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations MYO7A or USH2A, most commonly affected genes Type I (USH1) II (USH2), respectively.Eighty-eight patients with a clinical diagnosis USH1 (26 patients) USH2 (62 were retrospectively evaluated. Of these, 48 had 2 disease-causing (10 patients), USH2A (33 other USH (5 genes. Clinical investigation included best-corrected acuity, Goldmann field, fundus photography, electroretinography,...
Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent progressive retinal changes in achromatopsia, we performed detailed longitudinal phenotyping and characterization an Italian cohort comprising 21 ACHM patients (17 unrelated families). Molecular testing identified biallelic pathogenic mutations known genes, including four novel variants. At baseline, presented reduced best corrected visual acuity (BCVA), macular...
Background: Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, muco-cutaneous telangiectasias, and, in some cases, life-threatening visceral arteriovenous malformations. Ocular abnormalities include conjunctival telangiectasia, fistula, angiectasia, phlebectasia, angioma.Material Methods: We describe the ocular 8 patients from a pedigree with hereditary telangiectasia. This article...
To report on 4 patients affected by Stargardt's disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated subretinal fibrosis.Four a diagnosis of STGD were clinically examined. All cases underwent full ophthalmologic evaluation, including best-corrected visual acuity measured the Snellen chart, biomicroscopic examination, photography, electroretinogram, microperimetry, optical coherence tomography autofluorescence. subsequently screened for mutations, identified...
Background: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), comparing clinical findings between two types (i.e., USH1 and USH2).Material methods: A retrospective study was performed reviewing optical coherence tomography (OCT) 134 USH to determine presence abnormalities, including cystoid edema (CME), epiretinal membrane (ERM), vitreo-macular traction (VMT), hole (MH).Results: Macular were observed 126/268 (47.0%) examined eyes. The most...