Nicola Delle Noci

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PURPOSE Keratoconus is a noninflammatory corneal disorder that is clinically and genetically heterogeneous. Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus. To evaluate the possible role of the VSX1 gene in a series of Italian(More)
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural(More)
PURPOSE To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene. METHODS Best VMD patients with BEST1 mutations were evaluated prospectively regarding age, age of onset, best-corrected visual acuity (BCVA), fundus autofluorescence, fluorescein angiography, optical coherence tomography,(More)
PURPOSE Keratoconus (KC) is the most common indication for corneal transplantation in the Western world, with etiologic mechanisms still poorly understood. The disease prevalence in the general population is approximately 1:2000, and familial aggregation, together with increased familial risk, suggests important genetic influences on its pathogenesis. To(More)
T he frequency of unintended vein or peripheral nerve biopsy with temporal artery biopsy has not been addressed specifically in the literature. The results of an inadvertent biopsy of a temporal vein or branch of the facial or auriculotemporal nerve are not inconsequential. Depending on the precise location in the temporal region and the type of peripheral(More)
Burkitt's lymphoma (BL) is an aggressive B-cell non-Hodgkin lymphoma that is found predominantly in children, with the highest incidence occurring in Africa. The sporadic form occurs in non-endemic areas and typically involves the ileo-caecum and the bowel, whereas orbital and paranasal sinus involvement is rare. Here, we present an unusual case of sporadic(More)
The aim of the study was to describe a patient with pseudoxanthoma elasticum (PXE), showing Stargardt-like retinal abnormalities, who underwent treatment with intravitreal bevacizumab for subfoveal choroidal neovascularization (CNV) of the right eye (RE). A 57-year-old woman with diagnosis of angioid streaks, retinal flecks, and chorioretinal Stargardt-like(More)
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