Congenital Nystagmus Masquerading as Spasmus Nutans

Abstract

Reports of retinal disease or optic pathway tumors masquerading as “spasmus nutans” have appeared in the current literature, raising questions regarding the diagnostic and exclusion criteria for this disorder. The records of 68 consecutive children diagnosed with “spasmus nutans” at our institution revealed 17 patients (25%) in whom the diagnosis of spasmus nutans was later revised to congenital motor or sensory-anomaly nystagmus. Five patients had congenital motor nystagmus, three had subtle ocular albinism, three had achromatopsia, three had sensory loss nystagmus, two had Pelizeaus-Merzbacher Disease, and one had Batten's Disease. Spasmus nutans is an infantile onset disconjugate nystagmus with associated compensatory mechanisms that often mimics other types of early onset nystagmus. The diagnosis of spasmus nutans should only be made when all other causes of infantile nystagmus have been excluded.

• nystagmus
• spasmus nutans
• congenital motor nystagmus