ABSTRACT
A 47 year-old man with the mild form of Hunter syndrome [Mucopolysaccharidosis II-B] did not have corneal clouding, He had optic nerve head swelling and a pigmentary retinopathy which had slowly progressed from a prior examination at age 26 years. Review of the ocular findings in 37 other patients with MPS II-A and II-B confirmed the absence of corneal clouding in all patients, including 5 other adults with MPS II-B age 19-32 years, and the presence of optic nerve head swelling and pigmentary retinopathy in some
Subject(s)
Humans , Male , Eye ManifestationsABSTRACT
A 16 month old female is reported with Miller-Dieker syndrome of lissencephaly and chromosome 17p deletion. The patient was evaluated because of poor vision. Electroretinographic studies were suggestive of retinal dysfunction and visual evoked potentials indicated visual tract or cortical damage. This is the first patient with this syndrome to undergo detailed retinal and electrophysiologic evaluation. The embryology of the retina is reviewed and potential pathogenetic mechanisms are discussed. Visual loss in the Miller-Dieker syndrome seems to be due to a combination of retinal and central nervous system abnormalities