Matteo Scaramuzzi1,2, Priyanka Kumar3, Neal Peachey2, Paolo Nucci1, Elias I Traboulsi2. 1. a Department of Clinical Sciences and Community Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Multimedica , University of Milan, Eye Clinic San Giuseppe Hospital , Milan , Italy. 2. b Cole Eye Institute , Cleveland Clinic , Cleveland , OH , USA. 3. c Department of Ophthalmology , The Children's Hospital of Philadelphia , Philadelphia , PA , USA.
Abstract
PURPOSE: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration. MATERIALS AND METHODS: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography. RESULTS: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina. CONCLUSIONS: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.
PURPOSE:Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration. MATERIALS AND METHODS: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography. RESULTS: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina. CONCLUSIONS: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.
Authors: Ian C Han; Justine L Cheng; Erin R Burnight; Christy L Ralston; Jessica L Fick; Gabriella J Thomsen; Emilio F Tovar; Stephen R Russell; Elliott H Sohn; Robert F Mullins; Edwin M Stone; Budd A Tucker; Luke A Wiley Journal: Hum Gene Ther Date: 2020-10-20 Impact factor: 5.695
Authors: Alberto La Valle; Gianluca Piccolo; Mohamad Maghnie; Giuseppe d'Annunzio Journal: Int J Environ Res Public Health Date: 2021-11-15 Impact factor: 3.390