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Melanie Timmermann, Heinrich Gerding; Regional Defects Of Rpe-Pigmentation And Abnormal Vecp Amplitude Shift In A Patient With Prader Willi-Syndrome Indicate An Atypical Form Of Incomplete Albinism. Invest. Ophthalmol. Vis. Sci. 2012;53(14):980.
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© ARVO (1962-2015); The Authors (2016-present)
To analyze and classify atypical fundus findings in a 20-year old male with Prader Willi-syndrome.
In addition to basic ophthalmological examinations the following methods were applied: SD-OCT, standard and near-infrared autofluorescence, fluorescein and ICG-angiography, colour perception, standardized ERG and visual evoked potential recording, topographic analysis of VECP amplitudes, and MRI imaging of the orbit and cerebrum.
Best corrected visual acuity was 20/50 OD and 20/80 OS. Anterior segments did not present any abnormalities. Pupillary reactions, ocular motility and orthoptic status were normal. Funduscopic findings were: minor nasal prominence of the optic discs, relatively hypopigmented tabulated fundus, fine-structured RPE-irregularities of the fovea, and small parafoveal depigmented areas mainly in superior position. Fundus near-infrared and standard autofluorescence presented multiple intramacular hypofluorescent spots approximately 50-300 µm in diameter. These spots were transiently hyperfluorescent in angiography. In SD-OCT scans local irregularities and hyperreflective structures were identified on the level of the RPE-photoreceptor junction. The P100-latency of visual evoked potentials was 107 (OD) and 105 msec (OS). Topographic analysis of VECP amplitudes showed an atypical shift resembling findings in albino carriers. ERG a- and b-wave amplitudes were relatively high and implicit times relatively short. Nuclear magnetic resonance tomography revealed a hypolastic corpus callosum.
The association of reduced visual acuity, regionally fundus hypopigmentation, and electrophysiological findings observed in this case indicate an atypical form of incomplete albinism so far not reported in Prader Willi-syndrome.
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