Alberto Neri

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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)
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)
In rats treated with a thiamine deficient diet for 30 days the brain content of total thiamine decreased by 27-50%. Thiamine deficiency decreased the dopamine (DA) concentration of the striatum indicating a reduced synthesis of DA. In the hypothalamus the levels of the catecholamine metabolites homovanillic acid (HVA) and 4-hydroxy-3-methoxyphenyl glycol(More)
BACKGROUND Herein we report a case of bilateral anterior ischemic optic neuropathy (AION) showing histopathologic evidence of AL-amyloidosis of the temporal arteries. It is known that light-chain (AL) amyloidosis may rarely affect the temporal arteries, mimicking giant cell arteritis, while, to our knowledge, the association between AL-amyloidosis and AION(More)
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