title: Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
abstract: A 14-year-old boy presented with a presumed diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The neurological examination, nerve conduction study, and brain imaging results were all consistent with the diagnosis. The ophthalmologic examination was notable for a prominent myelinated nerve fiber layer extending from the disk along the major temporal arcades in both eyes. Loss of foveal depression was noted clinically and on spectral domain optical coherence tomography. This case highlights a novel finding that may aid in the diagnosis of ARSACS.
authors.affiliation: Department of Ophthalmology, University of Virginia, Charlottesville, Virginia.
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Shah
authors.affiliation: Department of Ophthalmology, University of Virginia, Charlottesville, Virginia.
authors.forename: Tyson S
authors.initials: TS
authors.lastname: Ward
authors.affiliation: Department of Radiology and Medical Imaging, University of Virginia, Charlottesville, Virginia.
authors.forename: Julie A
authors.initials: JA
authors.lastname: Matsumoto
authors.affiliation: Department of Ophthalmology, University of Virginia, Charlottesville, Virginia. Electronic address: shildkrot@virginia.edu.
authors.forename: Yevgeniy
authors.initials: Y
authors.lastname: Shildkrot
mesh_terms: D000293:Adolescent; D004576:Electromyography; D005124:Eye Abnormalities / Q000175:diagnosis*; D005584:Fovea Centralis / Q000002:abnormalities*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009128:Muscle Spasticity / Q000175:diagnosis*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction; D009898:Optic Disk / Q000473:pathology; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000175:diagnosis; D041623:Tomography, Optical Coherence