Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision

Noah Gruber*, Orit Pinhas-Hamiel*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

Abstract

Purposeof Review: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. Recent Findings: Wolfram syndrome, Kearns–Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision. They differ in mode of inheritance, age at presentation, and the involvement of other organs; they are often misdiagnosed as type 1 or type 2 diabetes. Summary: Suspicion of a genetic diabetes syndrome should be raised when pancreatic autoantibodies are negative, other organs are involved, and family history includes diabetes. Correct diagnosis of the various syndromes is important for tailoring the most advanced treatment, preventing disease progression, and enabling proper genetic counseling.

Original languageEnglish
Pages (from-to)423-432
Number of pages10
JournalCurrent Diabetes Reports
Volume22
Issue number9
DOIs
StatePublished - Sep 2022

Funding

FundersFunder number
UMR Inserm1283/CNRS 8199
Université de Lille
Institute Pasteur De Lille
Centre hospitalier régional universitaire de Lille

    Keywords

    • Genetic diabetes
    • Kearns–Sayre
    • Mitochondrial diabetes
    • Thiamine-responsive megaloblastic anemia
    • Wolfram

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