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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Detalles Bibliográficos
Autores principales: Fukuyo, Hanon, Inoue, Yuji, Takahashi, Hidenori, Hatano, Yu, Shibuya, Toko, Sakai, Norio, Kawashima, Hidetoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383205/
https://www.ncbi.nlm.nih.gov/pubmed/32774297
http://dx.doi.org/10.1159/000508066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383205/
https://www.ncbi.nlm.nih.gov/pubmed/32774297
http://dx.doi.org/10.1159/000508066

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