Reverse cascade diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS)

Hereditary 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.