Electroretinographic findings in the mucopolysaccharidoses.
The degree of retinal involvement of 20 patients (ages 3-21) with mucopolysaccharidosis (MPS) types I, II, and III was assessed using electroretinography (ERG) under standardized conditions. ERG evidence of retinal dysfunction ranged from none to severe in MPS I and II, and from moderate to severe in MPS III. The ERG abnormalities were common to all three types of MPS, and showed the pattern seen in rod-cone degenerations, where the rod-mediated responses are more severely affected than the cone-mediated responses. The ophthalmoscopic signs were less striking than the electrophysiologic findings, and were usually restricted to mild changes of the retinal pigment epithelium.
D000222:Adaptation, Physiological; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D006801:Humans; D008027:Light; D008297:Male; D009083:Mucopolysaccharidoses / Q000503:physiopathology*; D010786:Photoreceptor Cells / Q000503:physiopathology; D011446:Prospective Studies; D012160:Retina / Q000503:physiopathology*; D012720:Severity of Illness Index