Prevalence and Severity of Vision Loss in Wolfram Syndrome

Wolfram syndrome is a predominantly autosomal recessive condition with classic symptoms consisting of juvenile-onset diabetes mellitus, diabetes insipidus, sensorineural hearing loss, and optic atrophy. Not all patients with Wolfram syndrome will present with the full spectrum of symptoms, resulting in delays in diagnosis.

292 Prevalence and Severity of Vision Loss in Wolfram Syndrome Yunshuo Tang 1, Fumihiko Urano 1, Gregory Van Stavern 2 1 Washington University in Saint Louis, 2 Washington University in St Louis Introduction: Wolfram syndrome is a predominantly autosomal recessive condition with classic symptoms consisting of juvenile-onset diabetes mellitus, diabetes insipidus, sensorineural hearing loss, and optic atrophy. Not all patients with Wolfram syndrome will present with the full spectrum of symptoms, resulting in delays in diagnosis. Methods: Retrospective chart review was performed on 18 patients with Wolfram Syndrome confirmed by genetic testing, who presented to the Wolfram Center and the Neuro Ophthalmology Clinic at Washington University in Saint Louis. All patients underwent complete neuro-ophthalmic exams by a single attending physician. OCT was performed on a Zeiss machine at a single testing center and interpreted by the same attending. Linear regression with slope fitting was done using Prism. Statistical significance was defined as P < 0.05. Results: Among this cohort of 18 patients, only 13 had diabetes mellites, and only 6 presented with the full spectrum of classic Wolfram symptoms. 3 patients only had vision loss and no other major symptom. 10 out of 18 patients had best corrected vision in at least one eye better than 20/100, and 2 patients had 20/20 vision despite optic nerve pallor. The severity of visual impairment was inversely correlated with ganglion cell complex but not retinal nerve fiber layer thickness, age of visual symptom onset, or duration of optic atrophy. Conclusions: The majority of Wolfram patients in this cohort have mild to moderate visual impairment. Many patients with Wolfram Syndrome do not display the full spectrum of Wolfram symptoms, and some patients only have vision loss. therefore, it is important to consider screening for Wolfram syndrome in patients with unexplained central vision loss and optic nerve pallor, even if they lack other cardinal Wolfram symptoms. References: None provided. Keywords: Neuro-ophth & systemic disease ( eg. MS, MG, thyroid), Optic neuropathy, Pediatric neuro-ophthalmology Financial Disclosures: The authors had no disclosures. Grant Support: None. Contact Information: None provided. 450 | North American Neuro-Ophthalmology Society