D. Bonneau et al., BILATERAL CATARACT AND HIGH SERUM FERRITIN - A NEW DOMINANT GENETIC DISORDER, Journal of Medical Genetics, 32(10), 1995, pp. 778-779
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 sub
jects 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 als
o be a new contiguous gene syndrome involving the L ferritin gene and
the gene coding for the lens membrane protein (MP19), which both map t
o the same region of chromosome 19q.