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Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.
Jauregui, Ruben; Abreu, Nicolas J; Golan, Shani; Panarelli, Joseph F; Sigireddi, Meenakshi; Nayak, Gopi K; Gold, Doria M; Rucker, Janet C; Galetta, Steven L; Grossman, Scott N.
Afiliação
  • Jauregui R; Department of Neurology, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Abreu NJ; Department of Neurology, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Golan S; Department of Ophthalmology, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Panarelli JF; Department of Ophthalmology, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Sigireddi M; Department of Medicine, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Nayak GK; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Gold DM; Department of Radiology, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Rucker JC; Department of Neurology, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Galetta SL; Department of Neurology, New York University Grossman School of Medicine, New York, NY 10016, USA.
  • Grossman SN; Department of Ophthalmology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Brain Sci ; 13(7)2023 Jul 05.
Article em En | MEDLINE | ID: mdl-37508961
ABSTRACT
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical manifestations and age of onset. We describe four cases of genetically confirmed Wolfram syndrome with variable presentations, including acute-on-chronic vision loss, dyschromatopsia, and tonic pupils. All patients had optic atrophy, only three had diabetes, and none exhibited the classic Wolfram phenotype. MRI revealed a varying degree of the classical features associated with the syndrome, including optic nerve, cerebellar, and brainstem atrophy. The cohort's genotype and presentation supported the reported phenotype-genotype correlations for Wolfram, where missense variants lead to milder, later-onset presentation of the Wolfram syndrome spectrum. When early onset optic atrophy and/or diabetes mellitus are present in a patient, a diagnosis of Wolfram syndrome should be considered, as early diagnosis is crucial for the appropriate referrals and management of the associated conditions. Nevertheless, the condition should also be considered in otherwise unexplained, later-onset optic atrophy, given the phenotypic spectrum.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article