0000000001061463
AUTHOR
Maurizio Fossarello
sj-pdf-5-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-pdf-5-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
sj-docx-2-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-docx-2-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
sj-docx-3-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-docx-3-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …
Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Background: The purpose of this study was to evaluate the association between a novel psychometric 12-item questionnaire (U-qest) and other validated questionnaires to assess quality of life and work impairment in patients with non-infectious uveitis. Methods: Data were collected at baseline and 3 months postbaseline using U-qest and two other validated questionnaires: The National Eye Institute 25-Item Visual Function Questionnaire (VFQ-25) and the 12-Item Short-Form Health Survey (SF-12). Results: A total of 136 patients (52.2% female) aged 47.9 ± 14.8 years (mean ± SD) were enrolled in 14 uveitis referral centres. U-qest correlated moderately with VFQ-25 and SF-12 at baseline and at 3 mo…
sj-docx-1-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-docx-1-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
sj-pdf-4-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-pdf-4-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
sj-docx-3-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-docx-3-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
sj-pdf-5-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-pdf-5-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
sj-docx-1-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-docx-1-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error
Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopi…
sj-docx-2-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-docx-2-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology
sj-pdf-4-ejo-10.1177_11206721211034649 – Supplemental material for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires
Supplemental material, sj-pdf-4-ejo-10.1177_11206721211034649 for Non-infectious uveitis burden on quality of life and work impairment assessed through different psychometric questionnaires by Luca Cimino, Piergiorgio Neri, Elisabetta Miserocchi, Maria Pia Paroli, Lorenzo Vannozzi, Leonardo Mastropasqua, Caterina Gagliano, Maria Vadalà, Michele Figus, Francesca Romana Florio, Barbara Iaccheri, Paolo Mora, Maurizio Fossarello, Paola Balestrieri, Giuliana Gualberti, Francesca Marando and Massimo Accorinti in European Journal of Ophthalmology