Not Another Case Of Painless Vision Loss

The study of Wolfram syndrome may lead to a breakthrough for treatments of common diseases such as type 1 diabetes and raise awareness among eye-care professionals about recognizing and managing patients with this condition. The study of pathogenesis of Wolfram Syndrome could aid in understanding the underlying mechanism of cell death in endoplasmic reticulum stress-mediated neurodegenerative diseases (Alzheimer’s, Parkinson’s, ALS).

A 29-year-old woman presents to the ophthalmologist complaining of progressive painless vision loss, which is chronic and bilateral in nature.  She had been previously diagnosed with major depressive disorder, diabetes mellitus and diabetes insipidus. VA and BCVA did not correlate adequately with her refraction. During fundus examination bilateral generalized pallor of the optic discs with CD/R of 0.6 and 0.7 respectively, was documented. IOP was WNL.

Visual field examination yielded a bilateral generalized VF constriction, while OCT revealed bilateral severe GCC and RNFL loss. The patient was referred to radiology for contrast MRI of head and orbit and to ENT for audiometry. 

MRI demonstrated a mild atrophy of brainstem and cerebellum, coronal T2 weighed orbital images demonstrated bilateral optic nerve atrophy. On audiometry the patient had bilateral sensorineural hearing loss.

Based on the gathered data, patient was diagnosed with Wolfram Syndrome - a genetic condition characterized by diabetes insipidus, childhood-onset diabetes mellitus, a gradual loss of vision caused by optic atrophy, and deafness. Type 1 is caused by mutation in the WFS1 gene, while type 2 is caused by mutation in the CISD2 gene. 

Conclusion: By gathering all the information stated above, most importantly the combination of DM, DI, optic atrophy, bilateral sensorineural hearing loss and radiology findings – the patient was diagnosed with Wolfram Syndrome. This case clearly illustrates the significant clinical value of the detailed patient history and importance of multidisciplinary approach in carrying out the correct diagnosis.