Len change in hereditary hyperferritinemia-cataract yndrome

PURPOE: To provide detailed decription and illutration of the len change found in hereditary hyperferritinemia-cataract yndrome, a newly reported autoomal dominant condition. METHOD: Obervational cae report. A 19-year-old man wa referred for evaluation of poible hereditary hyperferritinemia-cataract yndrome. Hi erum ferritin level wa increaed at 1291 μg/L during a routine creening examination. Genetic analyi revealed mutation G51C on chromoome 19, predicting an altered iron repone element in L-ferritin mRNA. ubequent evaluation of hi 46-year-old father revealed imilar finding. REULT: Multiple breadcrumb-like nuclear and cortical len opacitie were een in thi father-on pair. Thee cae repreent the firt detailed decription and illutration of hereditary hyperferritinemia-cataract yndrome cataract in the ophthalmic literature. CONCLUION: Hereditary hyperferritinemia-cataract yndrome can be aociated with ditinct breadcrumb-like len opacitie. Recognition of thee characteritic cataract may aid identification and tudy of patient with thi unuual diorder and provide inight into mechanim of cataract formation.