A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings

Selma Meşen¹; Muhammed Batur²; Muhammet Derda Ozer³

DOI: 10.5935/0004-2749.2022-0069

1. Eye Clinic, Türkoğlu Dr. Kemal Beyazıt Public Hospital, Türkoğlu, Turkey
2. Ophthalmology Department, Faculty of Medicine, Van Yuzuncu Yil University, Tusba, Turkey
3. Ophthalmology Department, Faculty of Medicine, Bandırma Onyedi Eylül University, Balikesir, Turkey

Corresponding author

Selma Meşen
E-mail: [email protected]

Funding: This study received no specific financial support.

Disclosure of potential conflicts of interest: None of the authors have any potential conflicts of interest to disclose.

Informed consent was obtained from the patient included in this study.

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How to cite this article:

Meşen S, Batur M, Ozer MD. Uma nova mutação pontual levando à sialidose tipo 1 - síndrome mioclônica e seus achados na tomografia de coerência óptica. Arq. Bras. Oftalmol. 2024;87(5):. 10.5935/0004-2749.2022-0069

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