Eye Clinic, Türkoğlu Dr. Kemal Beyazıt Public Hospital, Türkoğlu, Turkey.
Ophthalmology Department, Faculty of Medicine, Van Yuzuncu Yil University, Tusba, Turkey.
Arq Bras Oftalmol. 2023 Apr 3;87(5):e20220069. doi: 10.5935/0004-2749.2022-0069. eCollection 2023.
This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs.
本报告介绍了光学相干断层扫描结果和 1 型神经氨酸酶 1（NEU1）突变与双侧黄斑樱桃红斑点综合征的关系，该综合征与唾液酸贮积症 1 型有关。一名 19 岁患者因黄斑樱桃红斑点接受了代谢和遗传分析，并结合频域光学相干断层扫描进行支持。眼底检查显示双侧黄斑樱桃红斑点。频域光学相干断层扫描显示视网膜内层和黄斑区光感受器层的高反射性增加。基因分析发现了一个新的 NEU1 突变，导致 1 型唾液酸贮积症。在有黄斑樱桃红斑点的病例中，唾液酸贮积症应包括在鉴别诊断中，并应筛查 NEU1 突变。频域光学相干断层扫描本身不足以进行鉴别诊断，因为儿童期代谢疾病可能表现出相似的体征。
