OBJECTIVE To evaluate the pattern of vision loss and genotype-phenotype correlations in
WFS1-associated optic neuropathy (WON). DESIGN Multicenter cohort study. METHODS …

Purpose: To identify the missing heritability of patients with Wolfram syndrome 1 (WFS1) in a
Chinese cohort and to report their clinical and genetic features. Methods: We recruited 24 …

Wolfram syndrome is a rare autosomal recessive disorder caused by mutations in the
wolframin ER transmembrane glycoprotein (WFS1) gene and characterized by diabetes …

To evaluate differences in macular and optic disc circulation in patients affected by Wolfram
Syndrome (WS) employing optical coherence tomography-angiography (OCTA) imaging. In …

Abstract Wolfram syndrome 1 (WS1) is a rare, autosomal recessive neurodegenerative
disorder characterized by diabetes insipidus, insulin-dependent diabetes mellitus, optic …

The inherited optic atrophies are characterized by loss of visual acuity and/or visual field
perception due to the loss of retinal ganglion cells, which form the final common pathway for …

Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with
hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical …

Background Wolfram syndrome type 1 is a rare neurodegenerative disorder including
diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional …

Background Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose
main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical …

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and
Genomics has served as the ultimate resource for clinicians integrating genetics and …