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Case Reports
. 1995 Oct;32(10):778-9.
doi: 10.1136/jmg.32.10.778.

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

D Bonneau  1 , I Winter-Fuseau, M N Loiseau, P Amati, M Berthier, D Oriot, C Beaumont
Affiliations
Case Reports

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

D Bonneau et al. J Med Genet. 1995 Oct.

Abstract

This paper reports the cosegregation in a three generation pedigree of dominantly inherited cataract with an abnormally high level of serum ferritin. In this family, circulating L ferritin was raised in all subjects affected by cataract independently of iron overload. We suggest that a disorder of ferritin metabolism could be a new genetic disorder leading to lens opacity. Cataract-hyperferritaemia syndrome could also be a new contiguous gene syndrome involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map to the same region of chromosome 19q.

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