Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome.

A 25-year-old woman presented with a 3-year history of progressive visual loss. She had type 1 diabetes mellitus (DM1) since 18-year-old. Fundoscopy showed atrophic optic discs (Figure 1). MRI disclosed bilateral optic nerve atrophy (Figure 2). Optic coherence temography demonstrated disease progression (Figure 3). Exome sequencing disclosed two deleterious mutations in WFS gene [the novel variant c.1228_1231delCTCT (p.Leu410Leufs*31) and the already reported mutation1 c.472 G>A (p.Glu158Lys)], confirming Wolfram syndrome (WFS). Full consent was obtained from the patient for the case publication WFS is a rare autosomal recessive disease characterized by DM1, optic atrophy, deafness, and diabetes insipidus2,3. The coexistence of DM1 and optic atrophy suggest WFS but molecular confirmation is mandatory4. Besides optic atrophy, MRI findings in WFS may include hyperintense signal in pons and in optic tracts, brainstem atrophy and absence of neurohypophyseal “bright signal”5.