Retinal changes in myotonic dystrophy: a clinicomorphological study.
This report appears to be the first ultrastructural study of the maculopathy and peripheral pigmentary retinopathy in myotonic dystrophy. Nine eyes from five patients observed during life are described. The findings were similar in all eyes, the retinal pigment epithelium in the macular region containing an accumulation of lipofuscin in large hyperpigmented cells. Pigment-laden profiles found in the subpigment epithelial space or subretinal space were interpreted as an attempt to discharge the pigment. Stress fibres of actin microfilaments were thrown into prominence by the irregularity of the pigment epithelium. In the periphery migration of retinal pigment cells into the retina occasionally resulted in the formation of bone corpuscles around occluded vessels, as occurs in retinitis pigmentosa; but more often the clumps were coarser and surrounded basement membrane material. Central and peripheral epiretinal membranes were also observed.
D002386:Cataract / Q000209:etiology; D003599:Cytoskeleton / Q000648:ultrastructure; D006801:Humans; D008268:Macular Degeneration / Q000209:etiology / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics; D010857:Pigment Epithelium of Eye / Q000648:ultrastructure; D012160:Retina / Q000648:ultrastructure*; D012162:Retinal Degeneration / Q000209:etiology / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000209:etiology / Q000473:pathology*