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Abdolrahimzadeh S.,University of Rome La Sapienza | Scavella V.,University of Rome La Sapienza | Felli L.,Section of Ophthalmology | Cruciani F.,University of Rome La Sapienza | And 2 more authors.
BioMed Research International | Year: 2015

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. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group. Copyright © 2015 Solmaz Abdolrahimzadeh et al. Source

Reynolds J.D.,State University of New York at Buffalo | Olitsky S.E.,Section of Ophthalmology
Pediatric Retina | Year: 2011

Pediatric ophthalmology is a unique subspecialty embracing all ocular anatomy and visual function. Within this discipline, the area representing the most diverse and challenging pathophysiology is pediatric retina. A sound grasp of the depth and range of pediatric retinal disorders - from tumors to infections, from retinopathy of prematurity to inherited disorders, from abuse to uveitis - is critical to effective care. This book provides a thorough, in-depth education for both the novice and the sophisticated practitioner. It is also designed to be a ready companion to the busy clinician on a daily basis. The diverse topics are discussed by one or more authors who bring special expertise to the subject. They may be pediatric or retina specialists, but their common denominator is that they know their subject intimately and apply that wealth of knowledge to their patients. From complex retinal physiology to disease diagnosis and management, their aim has been to impart the esoteric and the exceptional in a fashion that is practical and accessible. The editors' goal has been to make this an invaluable resource: the first book you will recommend to residents or turn to yourself to enhance care of the pediatric retina patient. © Springer-Verlag Berlin Heidelberg 2011. All rights are reserved. Source

Ohshima K.-I.,National Hospital Organization Okayama Medical Center | Sogabe Y.,Section of Ophthalmology | Sato Y.,Okayama University of Science
Japanese Journal of Ophthalmology | Year: 2012

Purpose: To investigate the frequency of infraorbital nerve enlargement (IONE) in orbital lymphoproliferative disorders, and to show that IONE can contribute to the clinical diagnosis of IgG4-related orbital diseases (IgG4- ROD). Subjects and methods: 71 cases in which orbital lymphoproliferative disorders were diagnosed at Okayama Medical Center and Mitoyo General Hospital from April, 2004 to March, 2011 were investigated. The male-to-female ratio was 39:32, and the age range 27-87 years old (average age 64.1 years). Whenever the coronal section of the infraorbital nerve was larger than that of the optic nerve on MRI, it was defined as IONE. Results: The breakdown of the 71 cases was: 45 cases of non-Hodgkin lymphoma, 16 cases of IgG4-ROD, 5 cases of reactive lymphoid hyperplasia, and 5 cases of idiopathic orbital inflammation. Of these, a total of 9 cases had IONE. The incidence of IONE was compared between the IgG4- ROD patient group and the non-IgG4-ROD patient group and was significantly higher in the IgG4-ROD patient group (p < 0.0001). Conclusion: If IONE is observed in a case of orbital lymphoproliferative disorders on MRI, then it is highly possible that such a case is IgG4-ROD. © Japanese Ophthalmological Society 2012. Source

French D.D.,Indiana University | Margo C.E.,University of South Florida | Harman L.E.,Section of Ophthalmology
Journal of Glaucoma | Year: 2011

PURPOSE: To test the hypothesis that cocaine use (abuse and/or dependency) is associated with open-angle glaucoma. METHODS: A case-control study. Potential case patients were identified from the Veterans Health Administration national clinical database using International Classification of Disease, Version 9, Clinical Modification for open-angle glaucoma for fiscal year 2009. Inclusion criteria included consecutive prescriptions for 1 or more topical antiglaucoma medications. Cocaine exposure was identified through International Classification of Disease, Version 9, Clinical Modification codes. The odds of cocaine exposure were compared with the overall outpatient population of national Veterans Health Administration beneficiaries and adjusted for age and other illicit drug use. A nested case-control study was conducted to examine the confounding influence of race. RESULTS: Age-adjusted odds ratios of cocaine exposure among patients with glaucoma were statistically significant for both men [3.52 (95% confidence interval, CI: 3.21-3.86)] and women [1.87 (95% CI: 1.79-1.96)], and did not change significantly when analyzed according to drug-dependency status. Subset analysis adjusted for age, other illicit drugs, and race remained significant for men [1.45 (95% CI: 1.27-1.66)], but not women. Persons with substance use disorder and glaucoma were nearly 18 years younger than glaucoma patients without a drug exposure history. CONCLUSIONS: This pilot study suggests the use of cocaine and possibly other illicit drugs are predictive of glaucoma. Should the association of substance use disorder (cocaine or cocaine/poly-drug abuse) and open-angle glaucoma be verified, it represents a potentially modifiable risk factor for vision loss. © 2011 by Lippincott Williams & Wilkins. Source

Cerase A.,Unit NINT Neuroimaging and Neurointervention | Leonini S.,Section of Radiology | Franceschini R.,Section of Ophthalmology | Grosso S.,University of Siena | Venturi C.,Unit NINT Neuroimaging and Neurointervention
Journal of Computer Assisted Tomography | Year: 2011

Our purpose was to increase the knowledge about subcortical low-intensity images on long repetition time by describing brain magnetic resonance images of a young boy after his first spontaneous seizure. Evident in the epileptogenic area were transient images of reversible subcortical low intensity on long-repetition time, T2*-weighted, and b = 0 s/mm diffusion, isointense signal on b = 1000 s/mm diffusion, and restricted diffusion. Most likely, mechanism was axonal flow disruption with iron accumulation and free radicals production induced during seizure. Copyright © 2011 by Lippincott Williams & Wilkins. Source

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