Ceroid lipofuscinosis.
Seven of ten patients with ceroid lipofuscinosis, including infantile, late infantile, juvenile, and atypical variants, presented with visual acuity loss. In the infantile case visual acuity loss was early and severe. Two patients with atypical variants did not develop ocular abnormalities. Children presenting with macular degeneration may have more extensive retinal involvement on electrophysiologic testing; neurologic evaluation may rule out the prodromal stages of lipofuscinosis.
D000293:Adolescent; D000328:Adult; D002493:Central Nervous System Diseases / Q000209:etiology; D002566:Ceroid / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005128:Eye Diseases / Q000209:etiology*; D005451:Fluorescein Angiography; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism*; D008268:Macular Degeneration / Q000209:etiology; D008661:Metabolism, Inborn Errors / Q000150:complications*; D009896:Optic Atrophy / Q000209:etiology; D010860:Pigments, Biological / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000209:etiology*; D013285:Strabismus / Q000209:etiology; D014792:Visual Acuity
D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological