Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study.

Abstract excerpt

BACKGROUND: Wolfram syndrome type 1 (WS1), or "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy (OA), and deafness, OMIM #222300), is a rare neurodegenerative disorder resulting from homozygous, compound heterozygous autosomal recessive (AR), or rarely autosomal dominant mutations in the WFS1 gene. Isolated OA with adult-onset, milder phenotypes in WS1 is rare and typically associated with biallelic...

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• Membrane Proteins
• Optic Atrophy
• Retinal Ganglion Cells
• Tomography, Optical Coherence
• Visual Acuity