Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications

Abstract

Because of occasional reports of exudative retinal detachment with facioscapulohumeral muscular dystrophy (FSH) and deafness, we sought to determine by fluorescein angiography whether there is any general relationship between FSH muscular dystrophy and retinal vascular disease. Peripheral retinal capillary abnormalities, comprising telangiectasis, closure, leakage and microaneurysm formation, were demonstrated by angiography in 56 out of 75 individuals with clinical or genetic evidence of FSH. Only 3 patients had relevant ophthalmoscopic abnormalities of the posterior pole and in only 1 was there consequent visual loss. This study included one FSH family in which the propositus was treated for exudative retinopathy and 13 other subjects had telangiectasis, and 8 cases (including 3 parents of apparently 'sporadic' FSH cases) in which fluorescein angiography confirmed the abnormal genotype, even though clinical examination of skeletal muscle revealed no clear abnormality. There was no correlation between the severity of the muscle disease and the extent of the retinal vascular abnormality. Visual complications of telangiectasis, although rare, may present early in life and before there is overt evidence of muscle disease. Since visual loss may be preventable, ophthalmic examination should be undertaken on infants at risk of having the abnormal gene. The findings support the hypothesis that retinal capillary abnormalities are an integral part of the FSH muscular dystrophy syndrome and raise the question as to whether analogous capillary abnormalities could be implicated in the pathogenesis of FSH muscle disease.