title: Alport syndrome with hereditary macular degeneration.
abstract: We present two patients, a mother and son, with Alport's syndrome (hereditary nephritis and perceptive deafness). Only the son had the typical lenticonus and perimacular flecks. Both patients had macular degeneration, the clinical manifestation of which resembled that seen in cone dystrophy. Colour vision was affected, the cone-mediated b-wave implicit times were increased in mother and in both her eyes the amplitudes were small, both to single flash stimuli and to 30 Hz white flicker. The macular changes in the son, though slight, were similar to those seen in the mother.
authors: Department of Ophthalmology, University of Helsinki Finland.
authors: K
authors: K
authors: Setälä
authors: P
authors: P
authors: Ruusuvaara
mesh_terms: D000328:Adult; D003118:Color Perception; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity