The infant with nystagmus, normal appearing fundi, but an abnormal ERG.
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.
Lambert
S R
SR
Department of Ophthalmology, Hospital for Sick Children, London, England.
Taylor
D
D
Kriss
A
A
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