Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.
Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.
D000328:Adult; D002648:Child; D003318:Corneal Opacity / Q000175:diagnosis* / Q000378:metabolism; D005132:Eye Manifestations; D005347:Fibroblasts / Q000032:analysis; D006025:Glycosaminoglycans / Q000032:analysis; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications* / Q000378:metabolism; D013577:Syndrome
D006025:Glycosaminoglycans