Publications by authors named "R F Berbel"
Von Hippel-Lindau disease: a single gene, several hereditary tumors.
J Endocrinol Invest
January 2018
The Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. This disease is associated with a high morbidity and mortality and presents a variable expression, with different phenotypes from family to family, affecting different organs during the lifetime. The main manifestations of VHL are hemangioblastomas of the central nervous system and retina, renal carcinomas and cysts, bilateral pheochromocytomas, cystic and solid tumors of the pancreas, cystadenomas of the epididymis, and endolymphatic sac tumors.
View Article and Find Full Text PDFBackground: The purpose of this study was to determine the value of spectral domain optical coherence tomography (SD-OCT) in assessing patients with diffuse unilateral subacute neuroretinitis (DUSN).
Methods: This was an observational case series with clinical imaging correlation performed at the Retina and Vitreous Institute of Londrina and State University of Londrina, Paraná, Brazil. The series comprised ten consecutive patients with a confirmed diagnosis of DUSN, ie, seven patients with late-stage disease and three with early-stage disease, who were assessed by SD-OCT for mean macular, retinal nerve fiber layer, and choroidal thickness using enhanced depth imaging software.
Article Synopsis
- The study aimed to explore how treating Helicobacter pylori (H. pylori) infections affects vision and macular detachment in patients with chronic central serous chorioretinopathy (CSC).
- Seventeen patients with CSC were tested for H. pylori; most were positive and treated, with improvements noted in their visual acuity and retinal health after treatment.
- The results indicated a potential link between H. pylori infection and chronic CSC, suggesting that treating the infection could lead to better outcomes, although more rigorous research is needed to confirm these findings.
To report a case of gyrate atrophy of the choroid and retina associated with retinal detachment. Hyperornithinemia confirmed the diagnosis of gyrate atrophy. Pars plana vitrectomy with silicone oil infusion was performed with good anatomical results, despite the persistence of low visual acuity.
View Article and Find Full Text PDFPurpose: The aim of this study was to report a case of a 52-year-old man with a rare fungal endophthalmitis after penetrating ocular trauma with a fish hook.
Results: The patient was submitted to wound repair and hook extraction. Three weeks after the trauma, a cataract extraction with phacoemulsification and in-the-bag intraocular lens implantation was performed.