Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report.
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.
Pourjavan
S
S
Department of Ophthalmology, UZ, Leuven, Belgium. sayeh.pourjavan@uz.kuleuven.ac.be
Fryns
J P
JP
Van Hove
J L K
JL
Poorthuis
B J H M
BJ
Casteels
I
I
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*