Evidence of retinal degeneration in Wolfram syndrome

Matteo Scaramuzzi, Priyanka Kumar, Neal Peachey, Paolo Nucci, Elias I. Traboulsi

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalOphthalmic Genetics
DOIs
Publication statusAccepted/In press - Jan 1 2018

Keywords

  • diabetes insipidus
  • diabetes mellitus
  • electroretinography
  • optic atrophy
  • retinal degeneration
  • Wolfram syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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    Scaramuzzi, M., Kumar, P., Peachey, N., Nucci, P., & Traboulsi, E. I. (Accepted/In press). Evidence of retinal degeneration in Wolfram syndrome. Ophthalmic Genetics. https://doi.org/10.1080/13816810.2018.1551494