A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual

Abstract

Purpose: To describe an atypical presentation of a rare disease in a young middle eastern woman with a relatively adult-onset type 1 diabetes mellitus, bilateral optic atrophy and progressive decreased vision diagnosed as the Wolfram disease.

Observation: A 38-year-old female patient presented with progressive bilateral loss of vision and dyschromatopsia during a 4-year follow-up. On examination at the neuro-ophthalmology clinic the visual acuity was 20/100 in the right eye and 20/80 in the left eye. Color vision evaluated with Ishihara color plates was 0/12 in each eye, optic discs were pale, while visual field testing revealed bilaterally constriction. Optical coherence tomography (OCT) scans showed gross thinning of optic nerve and macular layers. The medical history revealed diabetes mellitus type 1 at the age of 33 years-old. On follow-up visits further progressive vision loss was observed with additional complaints of mild hearing loss. The patient was referred for genetic testing.

Conclusion and importance: Wolfram syndrome (WFS) is an autosomal recessive rare neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life, hence known as 'DIDMOAD' syndrome, standing for diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA) and deafness (D)(1). Early onset DM and OA are usually the first manifestations of the syndrome, presenting classically in childhood. In contrast, the present patient presented later with type 1 diabetes mellitus and optic atrophy demonstrating a variability inherent to this syndrome. This is a case of Wolfram Syndrome in an individual of Middle Eastern ancestry. A high index of suspicion is crucial when evaluating patients who present with both diabetes mellitus and optic atrophy, as this combination may indicate atypical manifestations of rare genetic disorders such as Wolfram Syndrome DM and OA. Genetic testing of family members and offspring of patients is required to confirm the diagnosis. There is no definite treatment to date for this disease (2).

Keywords: Deafness; Diabetes insipidus; Diabetes mellitus; Genetic analysis; Optic atrophy; Optical coherence tomography.

Fig. 1

Optic atrophy of the right eye (A) and left eye (B).

Fig. 2

Optical coherence tomography RNFL GCL scan (A) Optical coherence tomography Macular scans of right eye (B.1) and left eye (B.2).

Fig. 3

T1 weighted enhanced (arrow) showing atrophy of the cerebellum.

Fig. 4

MRI in axial plane FLAIR sequence (arrow) showing atrophy of the optic nerves (A), Coronal T1 weighted enhanced MRI (arrow) showing atrophy of the optic nerves (B), Sagittal T1 weighted enhanced (arrow) showing atrophy of the optic chiasm (C).