Adult-form galactosialidosis: ocular findings in three cases.
We reported ocular findings of 3 patients with adult-form galactosialidosis. Diffuse fine opacities in the deep layer of the corneal stroma, an obscure cherry-red spot of the macula and optic nerve atrophy were noted in all cases. Punctate lenticular opacities were observed in 2 cases. Slowly progressive visual disturbance was seen in all cases, and it might be due to secondary optic nerve atrophy caused by retinal ganglion cell death.
Usui
T
T
Department of Ophthalmology, Niigata University School of Medicine, Japan.
Takagi
M
M
Abe
H
H
Iwata
K
K
Tsuji
S
S
Miyatake
T
T
D000328:Adult; D002386:Cataract / Q000473:pathology; D003318:Corneal Opacity / Q000473:pathology; D005128:Eye Diseases / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009439:Neuraminidase / Q000172:deficiency*; D009896:Optic Atrophy / Q000473:pathology; D012164:Retinal Diseases / Q000473:pathology; D001616:beta-Galactosidase / Q000172:deficiency*
D009439:Neuraminidase; D001616:beta-Galactosidase