Figure 1.

Multimodal imaging assessment of a 16-year-old female affected by Autosomal-dominant facioscapulohumeral muscular dystrophy (FSHD) [1], harboring the molecular variant on chromosome 4q35 (D4Z4 repeat contractions by DNA testing from peripheral blood), referred to the IRCCS-Fondazione Bietti Medical Retina Unit, for blurred vision in both eyes, evening fever and shoulder muscle weakness over the past month preceding assessment. Her visual acuity was 20/40 (Snellen Charts) in both eyes, no ptosis, intraocular pressure and anterior segment were within normal limits, no signs of inflammation in the anterior or posterior chambers was noted. Fundoscopy revealed marked retinal arteriolar tortuosity, RPE defects and foveal thickening in both eyes (1 upper boxes). Macular Spectral-Domain Optical Coherence Tomography (Spectralis HRA+OCT, Heidelberg Engineering, Heidelberg, Germany) scans showed bilateral pseudocyst abnormalities and disruption of the photoreceptor layer (second line boxes). Fundus autofluorescence (FAF) and fluorescein angiography (FA) (Spectralis HRA+OCT, Heidelberg Engineering, Heidelberg, Germany) exhibited widespread RPE defects located in the posterior pole and in the mid periphery with early macular hyperfluorescence without leakage in the late frame and no signs of peripheral ischemia/exudation (, upper boxes). In order to exclude other causes that could have triggered the visual acuity impairment, the patient also performed a visual field exam (30-2) and visual evoked potentials with results falling within normal limits. No medical treatment was prescribed for the observed macular abnormalities at baseline.