usher syndromes/edema

OBJECTIVE To evaluate patients with the Usher syn drome in Puerto Rico. METHODS Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. RESULTS All patients were legally blind based on visual acuity and visual field results. Two

BACKGROUND Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic

The bilateral temporal bones of a deceased 84-year-old man who had been suffering from Usher syndrome were examined using light microscopy. Histopathologic examination disclosed degeneration of the organ of Corti that was most profound in the basal turn, degeneration of cochlear neurons in all of

UNASSIGNED Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A

To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the

OBJECTIVE To determine the efficacy of sustained topical therapy with dorzolamide hydrochloride, 2%, on visual acuity and cystic macular lesions in patients with retinitis pigmentosa and Usher syndrome. METHODS In a retrospective case series at a university hospital, 64 eyes of 32 patients with

A prospective, controlled epidemiologic survey performed in El Bagre, Colombia revealed a new variant of endemic pemphigus disease, occurring in a gold mining region. The disease resembled Senear-Usher syndrome, and occurred in an endemic fashion. The aim of this study is to describe the most

OBJECTIVE To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery. METHODS Retrospective chart review at an academic tertiary referral centre. METHODS Thirty eyes from 18 patients with retinitis

OBJECTIVE To determine peripapillary retinal nerve fiber layer thickness (RNFL) abnormalities in patients with retinitis pigmentosa (RP) using Fourier-domain optical coherence tomography (Fd-OCT) and to evaluate the potential effect of cystoid macular edema (CME) or axial length on RNFL measurements

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the