title: [The role of ophthalmological examination in the diagnosis of gangliosidosis GM1].
abstract: Gangliosidosis GM1 belongs to a group of lysosomal storage diseases and results from the deficiency of acidic beta-galactosidase activity. The enzyme is essential for the degradation of ganglioside GM1 and its derivatives. The disease causes multi-organ injury, however accumulation of ganglioside GM1 mainly in the brain white and gray matter results in predomination of neurological symptoms. Based on the actual knowledge--the condition is untreatable and especially in the very severe infantile form, the duration of the survival is very short. One of the characteristic symptoms of some lysosomal storage diseases, including gangliosidosis GM1, is "cherry-red" spot found in the fundus of the eye. In the publication the clinical course of gangliosidosis GM1 in two infants is presented. The value of an ophthalmological examination in the diagnosis of this rare condition has been emphasized.
authors.affiliation: Z Kliniki Pediatrii, Endokrynologii, Diabetologii, Chorób Metabolicznych i Kardiologii Wieku Rozwojowego Pomorskiego Uniwersytetu Medycznego w Szczecinie. zdebela@op.pl
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Krzywińska-Zdeb
authors.forename: Maria
authors.initials: M
authors.lastname: Gizewska
authors.forename: Monika
authors.initials: M
authors.lastname: Modrzejewska
authors.forename: Hanna
authors.initials: H
authors.lastname: Romanowska
authors.forename: Iwona
authors.initials: I
authors.lastname: Stecewicz
authors.forename: Anna
authors.initials: A
authors.lastname: Pawłowska
authors.forename: Martyna
authors.initials: M
authors.lastname: Tuziak
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Walczak
mesh_terms: D003941:Diagnostic Techniques, Ophthalmological; D005654:Fundus Oculi; D016537:Gangliosidosis, GM1 / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis* / Q000473:pathology*; D014792:Visual Acuity; D014794:Visual Fields