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Francesco Meloni, Giulia Caminiti, Enrico Peiretti, Maurizio Fossarello; OCT findings in Autosomal Dominant Drusen. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3830.
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To evaluate the OCT characteristic in patients whit Autosomal Dominant Drusen also termed Malattia Leventinese.
14 eyes of 7 patients with a clinical diagnosis of Autosomal Dominant Drusen (mean time since the first diagnosis was 6 years) were evaluated with a Heidelberg HRA Spectralis (Heidelberg engineering) Spectral Domain OCT in normal and EDI fashion, in order to detect any significant alteration in the macular area.The mean age of the patients was 53 years, 3 men and 4 women (2 sisters). All patients underwent also to an ophthalmologic examinations including Snellen BCVA, fundus autofluorescence imaging, near infrared and color fundus picture.
In the macular area, the retina layers showed a mean thickness 193 μm (range 72-434 μm). The complex IS/OS RPE exhibited a partial alteration in 50 % of the patients (displasya of the layers) and an important hypereflective signal due by its complete disappeare in 43% of the eyes (geographic atrophy). The presence of basal laminar drusen as well as nodular subretinal pigmented ephitelium (RPE) deposits were observed in our series of patients.The mean choroidal thickness was 300 μm (range 230-340 μm). Interestingly, 10 eyes of 7 patients showed round or ovoid hyporeflective spaces with hyperreflective borders above the area of pigment epithelial alteration suggesting the presence of the outer retinal tubulations.
OCT appears to be a valid instrument in order to follow the patients affected by Autosomal Dominant Drusen and the presence of outer retinal tubulation could be an important indicator in the evolution of the disease.
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