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Moreno Menghini, Christian Pruente, Pierre Alexandre Krayenbuehl, Albina Nowak; Assessment of drusen and other retinal degenerative changes in patients with hereditary hemochromatosis. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):4220.
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The pathology of AMD is poorly understood. Oxidative stress is thought to induce a chronic inflammatory response with subsequent insult to the RPE and choriocapillaris. Iron can exert oxidative damage and increased accumulation is believed to play a role in AMD. In hereditary hemochromatosis (HH), excessive absorption of dietary iron leads to an increase of total body iron. The aim of our study is to assess patients with HH for drusen and other retinal degenerative changes.
Cross-sectional analysis of spectral-domain optical coherence tomography (SDOCT), short wavelength autofluorescence (SWAF) and color fundus images from patients with HH. The diagnosis of HH was established by measuring ferritin and transferrin saturation and confirmed by genetic diagnostic testing. Classification of the HH patients according to the ferritin level at the initial diagnosis: Group A <1000ng/ml; Group B >1000ng/ml.
Mean age in our population was 47±15 years (Group A: 46±14; Group B: 52±19, P>0.05). Average age at diagnosis was 39±15 in Group A and 45±16 in Group B, respectively (P>0.05). The genotype C282Y in the HFE was found in all subjects, while H63D in a minority, only. The average initial serum ferritin was 463± 216 ng/ml in Group A and 3309±154 ng/ml in Group B. There was no subject in either group that revealed drusen, changes of the RPE or increased lipofuscin accumulation in any of the obtained images.
Our results did not show an increased prevalence of drusen or other retinal degenerative changes in patients with HH. These findings may indicate that retinal iron overload is not commonly encountered in patients with HH. Conversely, increased total body iron accumulation is possibly not a potential risk factor for the development of AMD.
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