title: The infant with nystagmus, normal appearing fundi, but an abnormal ERG.
abstract: Many retinal disorders present during infancy with nystagmus, decreased vision, and normal-appearing fundi, but an abnormal ERG. The most common of these disorders are Leber's congenital amaurosis, achromatopsia, and congenital stationary night-blindness. Other disorders with similar ocular manifestations may be associated with a variety of life-threatening systemic abnormalities. This review describes the clinical, electrophysiological, and laboratory findings that can be used to distinguish among these conditions.
authors.affiliation: Department of Ophthalmology, Hospital for Sick Children, London, England.
authors.forename: S R
authors.initials: SR
authors.lastname: Lambert
authors.forename: D
authors.initials: D
authors.lastname: Taylor
authors.forename: A
authors.initials: A
authors.lastname: Kriss
mesh_terms: D001766:Blindness / Q000150:complications / Q000151:congenital / Q000175:diagnosis; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008297:Male; D008830:Microbodies; D009755:Night Blindness / Q000150:complications / Q000151:congenital / Q000175:diagnosis; D009759:Nystagmus, Pathologic / Q000209:etiology*; D010786:Photoreceptor Cells / Q000503:physiopathology; D012164:Retinal Diseases / Q000150:complications / Q000151:congenital / Q000175:diagnosis* / Q000503:physiopathology; D013577:Syndrome