Advancements in ocular imaging have significantly broadened our comprehension of
mitochondrial retinopathies and optic neuropathies by examining the structural and …

PURPOSE To describe the clinical phenotype of a cohort of patients with Wolfram syndrome
(WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance …

Wolfram syndrome (WS), also known as a DIDMOAD (diabetes insipidus, early-onset
diabetes mellitus, optic nerve atrophy and deafness) is a rare autosomal disorder caused by …

Wolfram syndrome (WS) is a monogenic progressive neurodegenerative disease and is
characterized by various neurological symptoms, such as optic nerve atrophy, loss of vision …

The optic nerve is the second cranial nerve but is not a true cranial nerve. Instead, it's an
extension of the brain parenchyma. The optic nerve transmits electrical impulses from the …

The association of hypogonadism and cerebellar ataxia was first recognized in 1908 by
Gordon Holmes. Since the seminal description, several heterogeneous phenotypes have …

The association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of
disorders, caused by different genetic mutations often associated with a recessive …

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 …

Wolfram syndrome (WS) is a rare autosomal recessive disorder affecting approximately 1:
500,000 individuals. The disorder is most commonly caused by mutations in the WFS1 gene …

Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with
progressive neurodegeneration. As an easily accessible biomarker of progression of …