Reverse cascade diagnosis of hereditary hyperferritinemia cataract
AbstractHereditary hyperferritinemia cataract syndrome is an autosomal dominant
disorder characterized by hyperferritinemia without iron overload, and
early-onset bilateral cataracts. Diagnosis is unusual in early infancy.
We present here the case of an infant girl diagnosed at the age of 9
months whose mother was also diagnosed by family screening. The mother
had a cataract which required follow up. It is important to inform
pediatricians of this syndrome in order to avoid unsafe treatments, such
as phlebotomies, and to set up an ophthalmologic follow-up.