1. Optical coherence tomography-angiography in Wolfram syndrome: a mitochondrial etiology in disease pathophysiology

    Optical coherence tomography-angiography in Wolfram syndrome: a mitochondrial etiology in disease pathophysiology

    Wolfram syndrome (WS), also known by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an autosomal recessive, progressive neurodegenerative disease. Patients with WS characteristically present with early onset diabetes mellitus and optic atrophy in the first decade of life, 1 diabetes insipidus and deafness in the second decade, and urinary tract with neurological complications in the third decade. WS has been shown to be associated with mutations in the WFS1 or CISD2 (WFS2) gene, probably leading to impaired calcium homeostasis and consequent widespread cellular apoptosis. 2 , 3 Optic atrophy is a constant and profound feature in ...

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