title: Ophthalmic findings in classical galactosaemia--prospective study.
abstract: Thirty three children with classical galactosaemia diagnosed through newborn screening are considered. It is concluded that cataract formation has a direct relationship with poor dietary control. Erythrocyte galactose-1-phosphate (Gal-1-P) levels do not correspond to cataract formation unless many times higher than normal. The value of crystalline lens biomicroscopy is confirmed as a useful method for monitoring the dietary and biochemical control in classical galactosaemia.
authors.affiliation: Department of Paediatric Ophthalmology, Children's Hospital, Dublin, Ireland.
authors.forename: B
authors.initials: B
authors.lastname: Beigi
authors.forename: M
authors.initials: M
authors.lastname: O'Keefe
authors.forename: R
authors.initials: R
authors.lastname: Bowell
authors.forename: E
authors.initials: E
authors.lastname: Naughten
authors.forename: N
authors.initials: N
authors.lastname: Badawi
authors.forename: B
authors.initials: B
authors.lastname: Lanigan
mesh_terms: D002386:Cataract / Q000209:etiology; D002648:Child; D005260:Female; D005693:Galactosemias / Q000150:complications / Q000178:diet therapy / Q000473:pathology*; D005695:Galactosephosphates / Q000097:blood; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology*; D008297:Male; D010349:Patient Compliance; D011446:Prospective Studies
chemical_list: D005695:Galactosephosphates; C029973:galactose-1-phosphate