Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction

Galactosialidosis is a rare metabolic disorder resulting from mutations in the CTSA gene. Few studies have reported on the ocular findings of galactosialidosis type IIb in detail. We report on a case of galactosialidosis, the diagnosis of which was suggested by bilateral macular cherry-red spots, wh...

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Bibliographic Details
Main Authors: Hanon Fukuyo, Yuji Inoue, Hidenori Takahashi, Yu Hatano, Toko Shibuya, Norio Sakai, Hidetoshi Kawashima
Format: Article
Language:English
Published: Karger Publishers 2020-07-01
Series:Case Reports in Ophthalmology
Subjects:
Online Access:https://www.karger.com/Article/FullText/508066