usher syndromes/edema

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Usher syndrome in Puerto Rico: a clinical and genetic study.

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Prijava / prijava

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

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

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Prijava / prijava

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

Usher syndrome. A temporal bone report.

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Prijava / prijava

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

Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.

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Prijava / prijava

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

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

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Prijava / prijava

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

Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings.

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Prijava / prijava

To investigate the functional and structural biomarkers and their correlation with Usher syndrome (USH).Medical records, imaging and electrophysiology test results of USH patients attending the Save Sight Institute between 2012 and 2017 were reviewed. Best

Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome.

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Prijava / prijava

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

Broad histopathologic patterns of non-glabrous skin and glabrous skin from patients with a new variant of endemic pemphigus foliaceus-part 1.

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Prijava / prijava

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

Cataract surgery outcomes and complications in retinal dystrophy patients.

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Prijava / prijava

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

Retinal nerve fiber layer analysis in RP patients using Fourier-domain OCT.

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Prijava / prijava

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

PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.

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Prijava / prijava

To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations.Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive examination, including

Expanding the clinical and genetic spectrum of Heimler syndrome.

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Prijava / prijava

Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. This study aimed to analyze the clinical and genetic

Retinitis pigmentosa.

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Prijava / prijava

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

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