Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.

ABSTRACT:

Purpose

To present a case of two siblings with optic atrophy associated with Wolfram Syndrome.

Observations

Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence. They were referred with a presumed diagnosis of Leber's Hereditary Optic Neuropathy. At baseline, visual acuity was 20/400 in the right eye and 20/200 in the left eye in patient A and 20/200 in both eyes in patient B, color perception tested with pseudo-isochromatic plates was 0/17 in each eye, optic discs were pale, visual field testing revealed diffuse scotomas bilaterally while electrophysiology showed delayed prominent positive deflection (P100) values in both patients. Personal history revealed Type 1 diabetes mellitus since early childhoo

SUBMITTER: Rotsos T 

PROVIDER: S-EPMC8892096 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature