Alstr öm syndrome mimicking spasmus nutans: report of a novel ALMS1 variant

We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alstr öm syndrome. She was diagnosed with a novel ALMS1 variant.
Source: Journal of AAPOS - Category: Opthalmology Authors: Tags: Short Report Source Type: research