[Ocular manifestations of patients with gangliosidosis].
This paper describes the ophthalmological findings in 4 patients with gangliosidosis (GLS). The diagnosis was verified by assaying hexosaminidase A and beta-galactosidase activities with marked deficiency. The presence of a cherry-red spot at the macular region, macular degeneration and atrophy of the optic disc were the main ocular manifestations. The ocular pathological changes seen under light and electron microscopy and the inherited error of metabolism of ganglioside are discussed.
Fei
P
P
PUMC Hospital, CAMS, Beijing.
Qin
M
M
Hu
T
T
D002675:Child, Preschool; D005260:Female; D016537:Gangliosidosis, GM1 / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000209:etiology* / Q000473:pathology; D008297:Male; D013661:Tay-Sachs Disease / Q000150:complications