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PURPOSE The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. METHODS DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct(More)
PURPOSE To describe clinical features in a large series of Möbius syndrome (MBS) cases, investigating whether specific neuro-ophthalmologic patterns of disease may provide further insight into MBS pathogenesis. DESIGN Observational, prospective study. PARTICIPANTS Fifty-five affected subjects. METHODS To make an MBS diagnosis, the criteria recommended(More)
PURPOSE To study the accommodation process in normal eyes using a commercially available clinical system based on swept-source anterior segment optical coherence tomography (AS-OCT). SETTING Ophthalmology Department, University of Parma, Italy. DESIGN Evaluation of diagnostic technology. METHODS Right eyes were analyzed using swept-source AS-OCT(More)
Inherited maculopathies, age related macular degeneration and some forms of retinitis pigmentosa are associated with impaired function or loss of the retinal pigment epithelium (RPE). Among potential treatments, transplantation approaches are particularly promising. The arrangement of RPE cells in a well-defined tissue layer makes the RPE amenable to cell(More)
PURPOSE To report a new sporadic case of membrane frizzled-related protein gene (MFRP)-related syndrome with a 30-month follow-up, and to review the literature for genotype-phenotype correlation in MFRP mutations. METHODS A complete ophthalmological evaluation was performed at presentation and 30 months later, including best-corrected visual acuity test,(More)
PURPOSE To assess accuracy and repeatability of central corneal thickness (CCT) measurements obtained by swept-source anterior segment optical coherence tomography (AS-OCT), spectral-domain retinal OCT with corneal module and ultrasound pachymetry (USP), and to assess repeatability of pachymetric mapping with AS-OCT. METHODS 50 healthy volunteers were(More)
This report describes two cases of Acremonium sp. endophthalmitis, occurring in two patients who underwent cataract surgery on the same day in the same operating room of our hospital ophthalmology clinic. Diagnosis of fungal endophthalmitis was established by the repeated isolation of the same fungal agent from vitreous washing, acqueous fluid and(More)
BACKGROUND AND AIM OF THE WORK retinal thickness values obtained by automated analysis with new spectral-domain optical coherence tomography (OCT) devices exceed those measured by old time-domain OCTs. Aim of the present work is to assess reproducibility and comparability of manual measurements performed on both time-domain and spectral-domain OCT scans. (More)