Alstrom syndrome is an autosomal recessive inherited retinal disease (IRD) due to mutations in the ALMS1 gene.1 The disorder is a ciliopathy that manifests initially as a cone-rod dystrophy. Systemic manifestations include diabetes mellitus, cardiomyopathy, obesity, hearing loss, and hepatic and renal dysfunction. Infants with Alstrom syndrome may present to pediatric ophthalmologists or pediatric neuro-ophthalmologists with nystagmus, photophobia, and poor vision.
Date
2022-02
Language
eng
Format
video/mp4
Type
Image/MovingImage
Source
2022 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of
NANOS Annual Meeting 2022: Complex Cases in Pediatric Neuro-Ophthalmology: Avoiding Mimickers, Missteps, and Misdiagnosis