ON THE SIGNIFICANCE OF RETINAL VASCULAR-DISEASE AND HEARING-LOSS IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

We have performed retinal fluorescein angiography and audiometry in 32 familial and 7 sporadic cases of facioscapulohumeral muscular dystrop hy. A mild to moderate retinal vasculopathy, consisting of retinal tel eangiectasis and microaneursyms, was present in 18 of 37 evaluable ang iograms (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 vasculopa thy or the hearing loss. There were no differences between families in which the myopathy was linked to chromosome 4q35 and families in whic h linkage could not be proven. Minimal retinal vascular changes and hi gh tone hearing loss can be observed occasionally in the normal popula tion. Therefore, although retinal vasculopathy and hearing loss are pa rt of the clinical picture of FSHD, these signs cannot be accepted as decisive criteria for FSHD in clinically equivocal cases. (C) 1995 Joh n Wiley and Sons, Inc.