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• W2163868680 abstract "We have performed retinal fluorescein angiography and audiometry in 32 familial and 7 sporadic cases of facioscapulohumeral muscular dystrophy. A mild to moderate retinal vasculopathy, consisting of retinal teleangiectasis and microaneurysms, was present in 18 of 37 evaluable angiograms (49%); 5 patients had minimal changes and 14 angiograms (38%) were normal. High frequency hearing loss was found in 25 (64%) out of 39 patients. Retinal changes were absent in 5 of 18 families (6 cases examined), and after correction for age and sex, hearing function was normal in 5 of 19 families (7 cases examined). Age and severity of the myopathy did not have a clear relationship with the retinal vasculopathy or the hearing loss. There were no differences between families in which the myopathy was linked to chromosome 4q35 and families in which linkage could not be proven. Minimal retinal vascular changes and high tone hearing loss can be observed occasionally in the normal population. Therefore, although retinal vasculopathy and hearing loss are part of the clinical picture of FSHD, these signs cannot be accepted as decisive criteria for FSHD in clinically equivocal cases." @default.
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• W2163868680 date "1995-01-01" @default.
• W2163868680 modified "2023-10-08" @default.
• W2163868680 title "On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy" @default.
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• W2163868680 doi "https://doi.org/10.1002/mus.880181314" @default.
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