title: ASSESSMENT OF DRUSEN AND OTHER RETINAL DEGENERATIVE CHANGES IN PATIENTS WITH HEREDITARY HEMOCHROMATOSIS.
abstract: OBJECTIVE
  Iron can exert oxidative damage, and increased accumulation is believed to play a role in age-related macular degeneration. Hereditary hemochromatosis leads to an increase in total body iron. Patients with HH were assessed for drusen and other retinal changes.
  
  
  METHODS
  Descriptive uncontrolled study of spectral-domain optical coherence tomography, short-wavelength autofluorescence, and color fundus images from patients with HH were used. Diagnosis of HH was established by measuring ferritin and transferrin saturation, and confirmed by genetic testing. Classification of the patients according to initial ferritin level was: Group A >1,032 μg/L; Group B below.
  
  
  RESULTS
  Twenty-five percent of the invited participants were enrolled. Mean age at diagnosis was 46 ± 15 years in Group A, and 38 ± 13 years in Group B, P = 0.07, whereas mean age at imaging was 60 ± 13 years in Group A, and 48 ± 15 years in Group B (P = 0.003). The median of the initial ferritin level was 1,869 (1,262-3,256) ng/mL in Group A, and 534 (439-679) ng/mL in Group B. No subject in either group revealed multiple drusen, unambiguous changes of the retinal pigment epithelium, or increased lipofuscin in any of the images.
  
  
  CONCLUSIONS
  The study results did not show an increased prevalence of drusen or other retinal degenerative changes in patients with HH. Thus, it was concluded that increased intestinal iron absorption as well as increased blood iron concentration are not risk factors for the early development of retinal degenerative changes in this study population.
authors.affiliation: Vista Diagnostics, Zurich, Switzerland.
authors.forename: Moreno
authors.initials: M
authors.lastname: Menghini
authors.affiliation: Eye Clinic, Kantonsspital Basel Land, Liestal, Switzerland.
authors.forename: Christian
authors.initials: C
authors.lastname: Prünte
authors.affiliation: Division of Internal Medicine, Linth Hospital, Uznach, Switzerland.
authors.forename: Pierre A
authors.initials: PA
authors.lastname: Krayenbuehl
authors.affiliation: Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland.
authors.forename: Albina
authors.initials: A
authors.lastname: Nowak
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005293:Ferritins / Q000032:analysis; D057092:Geographic Atrophy / Q000453:epidemiology; D006432:Hemochromatosis / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D015593:Retinal Drusen / Q000175:diagnosis / Q000453:epidemiology*; D041623:Tomography, Optical Coherence / Q000379:methods
chemical_list: D005293:Ferritins