title: Vitreous hemorrhage as an ophthalmic complication of galactosemia.
abstract: A major complication of galactosemia is cataracts. This is usually considered to be the sole ophthalmic feature of this disorder. However, we have encountered vitreous hemorrhage, a very rare ophthalmic finding, in five neonates with galactosemia and have found four probable additional cases in the literature. All of these infants had severe neonatal manifestations of galactosemia and were discovered to have vitreous hemorrhage by ophthalmologic examination initiated by the observation of clouding of the eye or on a routine basis. The infants lost most or all vision from the affected eye. Retinal abnormalities were present in the involved eyes of the five neonates of whom we have direct knowledge. Thus we believe that retinal hemorrhage is the most likely source of the vitreous hemorrhage and that the coagulopathy associated with neonatal disease in galactosemia leads to vitreous hemorrhage. Prompt recognition and therapy for the coagulopathy would likely prevent vitreous hemorrhage in galactosemia.
authors.affiliation: Division of Genetics, Children's Hospital, Boston, MA 02115, USA.
authors.forename: H L
authors.initials: HL
authors.lastname: Levy
authors.forename: A E
authors.initials: AE
authors.lastname: Brown
authors.forename: S E
authors.initials: SE
authors.lastname: Williams
authors.forename: E
authors.initials: E
authors.lastname: de Juan
mesh_terms: D005260:Female; D005693:Galactosemias / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000601:surgery; D008297:Male; D011379:Prognosis; D014821:Vitrectomy; D014823:Vitreous Hemorrhage / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery