Wolfram Syndrome: Report of Three Siblings with Early Vision Loss and Documented Lesion of the Entire Visual Pathway
Journal Title: Ophthalmology Research: An International Journal - Year 2015, Vol 4, Issue 4
Abstract
Objective: Report and document in images the presence of WFS1 in three of four siblings, with loss of visual acuity as the initial clinical presentation. Design: Case series study. Participants: Three of four siblings with WFS born to consanguineous parents. Methods: All patients had diagnostic imaging with contrast-enhanced brain magnetic resonance imaging (MRI) and digital retinography. Results: The patients and their father reported vision loss since before the age of seven, backed up by reports of multiple unsuccessful prescriptions for glasses and poor first-grade school performance due to visual deficit. Diabetes mellitus was diagnosed at seven years of age. All patients presented bilateral neurosensory deafness, atrophy of the posterior pituitary lobe, cerebellum, nerve, chiasma, optic tract and optic disc (bilateral), as well as urological changes and gait and balance disorders. One patient is epileptic and another suffers from a combination of anxiety and depression. Conclusion: Three unique cases of WFS due to early loss of visual acuity, lesion of the entire visual pathway documented in images, and an unusually high level of familial penetrance.
Authors and Affiliations
Brunella Maria Pavan Taffner, Patricia Grativol Costa Saraiva, Fábio Petersen Saraiva
Keywords
Related Articles
- EP ID EP338935
- DOI 10.9734/OR/2015/20537
- Views 79
- Downloads 0
Effects of Micronutrients on Serum Antioxidant Status of Glaucoma Patients: A Randomized, Placebo-controlled, Double-masked Pilot Study
Aims: Glaucoma is a chronic eye disease, which is associated with progressive optic neurodegeneration and concomitant visual field defects. Besides an elevated intraocular pressure, recent studies have suggested that oth...
Therapeutic Efficacy of Intravitreal Bevacizumab (Avastin)® in Patients with Parafoveal Telangiectasia Type II Complicated by Choroidal Neovascular Membrane and/or Cystoid Macular Edema
Aim: To evaluate the therapeutic efficacy of intravitreal bevacizumab (Avastin)® on visual acuity and macular edema in patients with parafoveal telangiectasia type II complicated by choroidal neovascular membrane and/or...
The Effect of Required Injection Numbers during the First Year on the Clinical Course of Neovascular Age-related Macular Degeneration
Aims: To evaluate the effect of injection number of ranibizumab on an as-needed treatment regimen during the first year of treatment on the clinical course of neovascular age-related macular degeneration (nAMD). Study De...
Visual Outcome versus Vision Satisfaction after Intravitreal Bevasizumb Injection in Diabetic Retinopathy
Introduction: Diabetic retinopathy as an important complication of diabetes mellitus is a common cause of blindness in diabetic people. A cure or treatment is not available yet. This study was designed to investigate the...
Recurrent Radiation Retinopathy and Optic Neuropathy after Cranial Irradiation Therapy Treated by Intravitreal Bevacizumab
Purpose: To report a case of radiation retinopathy and optic neuropathy after head irradiation therapy treated by intravitreal triamcinolone and bevacizumab Methods: Case report. Case: A 38 year old woman presented with...