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...
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 |
Similar Items
-
Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism
by: Okulu E, et al.
Published: (2017-12-01) -
Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept
by: Jaclyn Cadaoas, et al.
Published: (2021-03-01) -
Adult Onset Familial Cherry-Red Spot Myoclonus
by: Chi Kyung Kim, et al.
Published: (2009-05-01) -
Some biological properties of new sweet cherry cultivars in Bulgaria and their susceptibility to Blumeriella jaapii
by: M. Borovinova, et al.
Published: (2007-09-01) -
Cherry angioma: A case–control study
by: Ramah I Nazer, et al.
Published: (2020-01-01)