Abnormally Small Neuromuscular Junctions in the Extraocular Muscles From Subjects With Idiopathic Nystagmus and Nystagmus Associated With Albinism

• Published in: Investigative ophthalmology & visual science Vol. 57; no. 4; pp. 1912 - 1920
• Main Authors: McLoon, Linda K., Willoughby, Christy L., Anderson, Jill S., Bothun, Erick D., Stager, David, Felius, Joost, Lee, Helena, Gottlob, Irene
• Format: Journal Article
• Language: English
• Published: United States The Association for Research in Vision and Ophthalmology 01.04.2016
• Subjects: Adolescent; Albinism - pathology; Albinism - physiopathology; Brain-Derived Neurotrophic Factor - physiology; Case-Control Studies; Child; Child, Preschool; Eye Movements, Strabismus, Amblyopia and Neuro-Ophthalmology; Female; Humans; Male; Neuromuscular Junction - physiopathology; Neuromuscular Junction - ultrastructure; Nystagmus, Congenital - pathology; Nystagmus, Congenital - physiopathology; Nystagmus, Pathologic - pathology; Nystagmus, Pathologic - physiopathology; Oculomotor Muscles - innervation; Young Adult

Infantile nystagmus syndrome (INS) is often associated with abnormalities of axonal outgrowth and connectivity. To determine if this manifests in extraocular muscle innervation, specimens from children with idiopathic INS or INS and albinism were examined and compared to normal age-matched control e...