title: Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.
abstract: Hyperferritinemia-cataract syndrome (HCS) is a rare Mendelian condition characterized by bilateral cataract and high levels of serum ferritin in the absence of iron overload.
  
  
  
  HCS was diagnosed in three adult siblings. In two of them it was possible to assess lens changes initially in 1995 and again in 2013. Serum ferritin, iron, transferrin concentrations and transferrin saturation percentage were also measured, and the Iron Responsive Element (IRE) region of the L-ferritin gene (FTL) was studied.
  
  
  
  Serum ferritin concentrations were considerably elevated while serum iron, transferrin and transferrin saturation levels were within the normal range in each sibling. Cataract changes in our patients were consistent with those previously reported in the literature. Progression of the cataract, an aspect of few studies in this syndrome, appeared to be quite limited in extent. The heterozygous +32G to T (-168G>T) substitution in the IRE of the FTL gene was detected in this family.
  
  
  
  Ophthalmic and biochemical studies together with genetic testing confirmed HCS in three family members. Although the disorder has been extensively described in recent years, little is known regarding cataract evolution over time. In our cases, lens evaluations encompassed many years, identified bilateral cataract of typical morphology and supported the hypothesis that this unique clinical feature of the disease tends to be slowly progressive in nature, at least in adults.
authors: a Medical Genetics, Molecular Medicine Department , Sapienza University , San Camillo-Forlanini Hospital, Rome , Italy.
authors: Ilaria
authors: I
authors: Cosentino
authors: b Department of Sciences , Roma Tre University , Rome , Italy.
authors: Fabrizio
authors: F
authors: Zeri
authors: c School of Optometry , Hong Kong Polytechnic University , Hong Kong.|d School of Optometry and Vision Science , Queensland University of Technology , Brisbane , Australia.
authors: Peter G
authors: PG
authors: Swann
authors: a Medical Genetics, Molecular Medicine Department , Sapienza University , San Camillo-Forlanini Hospital, Rome , Italy.
authors: Silvia
authors: S
authors: Majore
authors: a Medical Genetics, Molecular Medicine Department , Sapienza University , San Camillo-Forlanini Hospital, Rome , Italy.
authors: Francesca Clementina
authors: FC
authors: Radio
authors: b Department of Sciences , Roma Tre University , Rome , Italy.|e Unit of Ophthalmology , "G.B.Grassi" Hospital , Rome , Italy.
authors: Paolo
authors: P
authors: Palumbo
authors: a Medical Genetics, Molecular Medicine Department , Sapienza University , San Camillo-Forlanini Hospital, Rome , Italy.
authors: Paola
authors: P
authors: Grammatico
authors: f Department of Ophthalmology , San Camillo-Forlanini Hospital , Rome , Italy.
authors: Vincenzo
authors: V
authors: Petitti
mesh_terms: D000328:Adult; D001052:Apoferritins / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000097:blood; D005500:Follow-Up Studies; D006801:Humans; D019189:Iron Metabolism Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014168:Transferrin / Q000378:metabolism
chemical_list: D014168:Transferrin; D005293:Ferritins; D001052:Apoferritins
keywords: Cataract; L-ferritin gene; hyperferritinemia-cataract syndrome; iron responsive element