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成人型半乳糖唾液酸贮积症:3例眼部表现

Adult-form galactosialidosis: ocular findings in three cases.

作者信息

Usui T, Takagi M, Abe H, Iwata K, Tsuji S, Miyatake T

机构信息

Department of Ophthalmology, Niigata University School of Medicine, Japan.

出版信息

Ophthalmologica. 1991;203(4):176-9. doi: 10.1159/000310248.

DOI:10.1159/000310248
PMID:1784463
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.

摘要

我们报告了3例成人型唾液酸贮积症患者的眼部检查结果。所有病例均发现角膜基质深层弥漫性细混浊、黄斑区樱桃红斑模糊及视神经萎缩。2例观察到晶状体点状混浊。所有病例均出现缓慢进展的视力障碍,这可能是由于视网膜神经节细胞死亡导致继发性视神经萎缩所致。

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Adult-form galactosialidosis: ocular findings in three cases.成人型半乳糖唾液酸贮积症:3例眼部表现
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Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.一名患有I型GM1神经节苷脂贮积症的患者出现樱桃红斑、视神经萎缩和角膜混浊。
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引用本文的文献

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Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction.伴有双侧黄斑樱桃红斑但功能轻度障碍的IIb型半乳糖唾液酸贮积症
Case Rep Ophthalmol. 2020 Jul 7;11(2):306-314. doi: 10.1159/000508066. eCollection 2020 May-Aug.
2
Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings.溶酶体丝氨酸羧肽酶Scpep1和组织蛋白酶A双缺陷的小鼠会出现增殖性水泡性角膜营养不良和肥厚性皮肤增厚。
PLoS One. 2017 Feb 24;12(2):e0172854. doi: 10.1371/journal.pone.0172854. eCollection 2017.
3
A co-occurrence of familial isolated cherry red spot and multiple lens opacities.
家族性孤立性樱桃红斑与多发性晶状体混浊并存。
Eye (Lond). 2014 Mar;28(3):344-7. doi: 10.1038/eye.2013.271. Epub 2013 Dec 20.
4
Conjunctival biopsy in adult form galactosialidosis.成人型唾液酸贮积症的结膜活检
Br J Ophthalmol. 1993 Mar;77(3):165-7. doi: 10.1136/bjo.77.3.165.