[Granular corneal dystrophy or Groenouw's disease type 1. A challenge to Norwegian biochemists, geneticists and ophthalmologists].
A Norwegian family with granular corneal dystrophy was described by Saebø (2) as early as 1939. One of the branches in this family is further described in the present work. The sickness, which is autosomal dominant, occurred with high penetrance, especially in generation IV and V, with as many as 12 of 16 affected in generation V. In the youngest generation described only 10 of 23 are affected. The reason for this cannot be predicted from the present work. The results in this generation are more uncertain than in the others because of the age of the patients. If we include the work done by Saebø, a total of 45 of 73 children are affected (62%). Further work is needed. Ophthalmologists, biochemists and persons working on genetics should make a joint effort to study the reason for the formation and the composition of the granulae on the corneas of these patients.
Andresen
I L
IL
Trondheim Katedralskole.
D000293:Adolescent; D000328:Adult; D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009664:Norway; D010375:Pedigree; D011379:Prognosis
Granulaer hornhinnedystrofi eller Groenouws sykdom type 1. En utfordring til norske biokjemikere, genetikere og øyeleger.