Publications by authors named "Maria T Contestabile"

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Introduction: Pigment dispersion syndrome (PDS) is a condition where anomalous iridozonular contact leads to pigment dispersion throughout the anterior segment and the released pigment is abnormally deposited on various ocular structures.

Clinical Presentation: The clinical presentation of PDS is defined by the presence of pigmented cells on the corneal endothelium, an increase of pigmentation of the trabecular meshwork, and mid-periphery transillumination defects of the iris. This syndrome, more common in myopes, is usually bilateral and can be associated with ocular hypertension or glaucoma.

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We present the case of a 12-year-old boy with Sturge-Weber syndrome and ocular melanocytosis who presented with bilateral naevus flammeus of the face and hyperpigmentation of the right iris associated with ipsilateral iris mammillations. The patient had glaucoma and a diffuse choroidal haemangioma of the right eye. Optical coherence tomography of the anterior segment confirmed iris hyper-pigmentation and did not show abnormalities of the chamber angle structures.

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Carotid cavernous fistulas (CCF) are vascular communications between the carotid artery and the cavernous sinus. Ophthalmologists are called to diagnose and manage the condition in cases that present with ocular features. A 73-year-old female was referred to our glaucoma center clinic.

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The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis.

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Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases.

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Purpose: To evaluate peripapillary retinal nerve fiber layer, macular retinal nerve fiber layer, and ganglion cell layer-inner plexiform layer thickness and analyze their correlations in adult patients with neurofibromatosis Type 1 (NF1) and disease-free controls.

Methods: This cross-sectional study was performed at the Azienda Policlinico Umberto I, University of Rome "La Sapienza." All participants underwent complete ophthalmologic examination.

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Purpose: To describe the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene.

Methods: We performed a comprehensive ophthalmologic examination, fundus photography, macular optical coherence tomography, perimetry, electroretinography, and fluorescein angiography in an Italian family. The clinical diagnosis was supported by western blot analysis of lymphoblastoid cell lines from patients with CHM and carriers, using a monoclonal antibody against the 415 C-terminal amino acids of Rab escort protein-1 (REP-1).

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Purpose: To investigate the effect of refractive correction on the reliability and accuracy of frequency-doubling technology (FDT) Matrix examinations.

Methods: Forty-eight eyes of healthy people were submitted to the FDT Matrix 30/2 threshold program. They had experience in perimetry, normal eye examination, and negative history for glaucoma and/or neurological diseases.

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Objective: To evaluate the correlation between tear osmolarity and blood levels of 17-β estradiol, estrone, and testosterone in postmenopausal women with dry eye syndrome, and to assess the efficacy and safety of oral supplementation with phytoestrogens, lipoic acid, and eicosapentaenoic acid in this population.

Design: Cross-sectional study including 66 postmenopausal women with dry eye syndrome.

Methods: Sixty-six postmenopausal women with dry eye syndrome were enrolled in a randomized, double-blind, placebo-controlled, crossover study.

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Purpose: To document the clinical, functional, and in vivo microanatomic characteristics of a patient with Gorlin-Goltz syndrome with a novel nonsense mutation in PTCH (patched).

Methods: Optical coherence tomography (OCT), fluorescein angiography, electrophysiologic testing, visual field, magnetic resonance imaging, and mutation screening of PTCH gene.

Results: Visual acuity was 20/20 in the right eye and 20/25 in the left.

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Purpose: To compare the mydriatic effects of 2% ibopamine and collyrium containing 10% phenylephrine + 0.5% tropicamide and to study the associated drug in patients with ocular pseudoexfoliation (PEX) syndrome.

Methods: This was a prospective, comparative, interventional clinical study.

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Purpose: The authors report a case of eyelid subcutaneous filariasis.

Methods: Thorough history, eye examination, surgical intervention, and parasitologic analysis.

Results: An adult Dirofilaria repens worm was extracted from the right upper eyelid in a man living in Italy presenting to our department with lid swelling.

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Purpose: To determine learning effect in healthy patients without perimetric experience, tested with the frequency doubling technology perimetry, with the new model Matrix.

Patients And Methods: Frequency doubling technology in the 30-2 threshold mode was performed on 37 healthy subjects. Each subject was tested twice in different sessions.

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One hundred and ten patients (179 eyes) with reduced visual acuity caused by different ocular disorders underwent visual rehabilitation with an instrument for biofeedback: improved biofeedback integrated system (Ibis). One hundred and fourteen eyes had age-related macular degeneration, 39 eyes had myopic macular degeneration, and 26 eyes were affected by different ocular disorders. A placebo training was developed on 34 patients (47 eyes).

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Purpose: To evaluate intraocular pressure (IOP) variations after automated visual field examination in patients with primary open-angle glaucoma and in healthy subjects.

Patients And Methods: Intraocular pressure was measured in 49 patients (94 eyes) with primary open-angle glaucoma and in 13 healthy subjects (26 eyes) before and immediately after automated visual field examination. All patients had stable IOP and were using local medication to treat glaucoma.

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Background And Objective: To provide a detailed description of the clinical features that are considered forerunners of symptomatic complications in asymptomatic degenerative retinoschisis, and to show that in selected cases at this stage prophylactic photocoagulation may be a better choice than mere observation.

Materials And Methods: Forty-three eyes of 27 patients with asymptomatic bullous degenerative retinoschisis and outer layer breaks (OLBs) were studied through binocular indirect dynamic ophthalmoscopy and retinal biomicroscopy with the Goldmann 3-mirror lens, fundus drawings, and photographs where feasible. Argon laser treatment was performed on each eye: first, around the posterior border of the schisis to achieve a full-thickness retinal scar, and then on the schisis itself to promote scarring of the retinal pigment epithelium, thus avoiding retinal detachment.

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