Publications by authors named "Stefania Miotto"

Background: The objectives of this study were to evaluate the quality-of-life (QoL) impact of eye diseases (keratoconus; neovascular age-related macular degeneration, AMD; retinal vein occlusion, RVO; and diabetic macular edema, DME) using the Impact of Vision Impairment (IVI) questionnaire, and to determine the relationship between the IVI scores and visual acuity.

Methods: This cross-sectional, multicentre, real-world study utilised the prospective, web-based Save Sight Registries. The IVI was completed by 1557 patients: 307 with keratoconus, 1049 with AMD, 148 with RVO and 53 with DME.

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Topic: To estimate the prevalence of nonrefractive visual impairment and blindness in European persons 55 years of age and older.

Clinical Relevance: Few visual impairment and blindness prevalence estimates are available for the European population. In addition, many of the data collected in European population-based studies currently are unpublished and have not been included in previous estimates.

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Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability. Although a number of mutations in different genes are now known to cause DOA, many cases remain undiagnosed. In an attempt to identify the underlying genetic defect, whole exome sequencing was performed in a 19-year-old male that had been affected by isolated DOA since childhood.

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Intravitreal antivascular endothelial growth factor drugs represent the current standard of care for neovascular age-related macular degeneration (nAMD). Individualized treatment regimens aim at obtaining the same visual benefits of monthly injections with a reduced number of injections and follow-up visits, and, consequently, of treatment burden. The target of these strategies is to timely recognize lesion recurrence, even before visual deterioration.

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The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure. Two brothers with an early onset maculopathy were diagnosed with XLRS. Fundus photography, fluorescein angiography, spectral domain optical coherence tomography and electroretinogram analyses were performed.

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Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence tomography (SD‑OCT). Mutations in the RP1L1 gene have been identified to be responsible for the disease in Asian subjects.

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Purpose: To investigate whether genetic and non-genetic risk factors influence 12-month response to ranibizumab treatment for exudative age-related macular degeneration (AMD).

Methods: A cohort of 94 Caucasian patients with unilateral exudative AMD received intravitreal ranibizumab. After a three-injection loading phase, a PRN regimen was followed.

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Purpose: To evaluate the long-term corneal safety of topical mitomycin C (MMC) used during photorefractive keratectomy to prevent haze formation in highly myopic eyes.

Methods: Twenty-eight patients with bilateral high myopia underwent photorefractive keratectomy. One eye was randomly assigned to intraoperative 0.

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Purpose: To validate corneal sub-basal nerve plexus examination by in vivo corneal confocal microscopy.

Methods: Five parameters of corneal sub-basal nerve plexus in 250 human eyes (nerve fiber length, number of fibers, number of beadings, branching pattern, fiber tortuosity) acquired using in vivo corneal confocal microscopy (Confoscan 4.0; NIDEK Co Ltd) were analyzed.

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Purpose: To evaluate the long-term side effects of mitomycin C (MMC) assisted photorefractive keratectomy (PRK) on corneal keratocytes of highly myopic eyes.

Methods: Twenty-eight patients with bilateral myopia from -7.00 to -14.

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