title: Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report.
abstract: Mucolipidosis III (Pseudo-Hurler Polydystrophy) is a rare autosomal recessively inherited Hurler-like disease. The ophthalmological findings in these patients include a triad of mild retinopathy, corneal clouding and hyperopic astigmatism. We present a patient with these ophthalmological characteristics.
authors.affiliation: Department of Ophthalmology, UZ, Leuven, Belgium. sayeh.pourjavan@uz.kuleuven.ac.be
authors.forename: S
authors.initials: S
authors.lastname: Pourjavan
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: J L K
authors.initials: JL
authors.lastname: Van Hove
authors.forename: B J H M
authors.initials: BJ
authors.lastname: Poorthuis
authors.forename: I
authors.initials: I
authors.lastname: Casteels
mesh_terms: D000293:Adolescent; D001251:Astigmatism / Q000175:diagnosis / Q000209:etiology*; D003316:Corneal Diseases / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D009081:Mucolipidoses / Q000150:complications*; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*