Hyperferritinaemia-cataract syndrome.
The first family with hyperferritinaemia-cataract syndrome in Scandinavia is described. We discuss the etiology and point at this diagnosis as a differential diagnosis in case of hereditary cataract.
Lindberg
K
K
Department of Ophthalmology, University Hospital of Oslo, Norway.
Hellebostad
M
M
D002386:Cataract / Q000097:blood / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D019189:Iron Metabolism Disorders / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
D005293:Ferritins