Literature DB >> 1784463

Adult-form galactosialidosis: ocular findings in three cases.

T Usui1, M Takagi, H Abe, K Iwata, S Tsuji, T Miyatake.   

Abstract

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.

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Year:  1991        PMID： 1784463     DOI： 10.1159/000310248

Source DB:  PubMed          Journal:  Ophthalmologica        ISSN： 0030-3755            Impact factor:   3.250


  3 in total

1.  A co-occurrence of familial isolated cherry red spot and multiple lens opacities.

Authors:  O Esmer; R Karadag; E Soylu; M Dogan
Journal:  Eye (Lond)       Date:  2013-12-20       Impact factor: 3.775

2.  Conjunctival biopsy in adult form galactosialidosis.

Authors:  T Usui; S Sawaguchi; H Abe; K Iwata; K Oyanagi
Journal:  Br J Ophthalmol       Date:  1993-03       Impact factor: 4.638

3.  Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings.

Authors:  Xuefang Pan; Yanting Wang; Torben Lübke; Aleksander Hinek; Alexey V Pshezhetsky
Journal:  PLoS One       Date:  2017-02-24       Impact factor: 3.240
  3 in total

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