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Alport syndrome with hereditary macular degeneration
Author(s) -
Setälä Kirsi,
Ruusuvaara Pekka
Publication year - 1989
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1989.tb01625.x
Subject(s) - medicine , ophthalmology , macular degeneration , degeneration (medical) , macular dystrophy , dystrophy , audiology , optometry , pathology
. 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 the 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.