Еye manifestations of Gaucher’s disease
- 作者: Kogoleva L.1, Bobrovskaja J.1, Milash S.1
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隶属关系:
- Helmholtz National Medical Research Center of Eye Diseases
- 期: 卷 16, 编号 4 (2021)
- 页面: 21-26
- 栏目: Case reports
- URL: https://journals.rcsi.science/1993-1859/article/view/87436
- DOI: https://doi.org/10.17816/rpoj87436
- ID: 87436
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详细
Gaucher’s disease is a rare autosomal recessive disease that belongs to the group of sphingolipidoses. This pathology is caused by a lysosomal enzyme glucocerebrosidase deficiency, which leads to its substrate, glucosylceramide, accumulation in macrophages, and leads to damage to the nervous system, parenchymal organs, and the hematopoietic system. The literature reported isolated cases of vision organ damages such as oculomotor function disorders and violations of the structure of the vitreous, retina, cornea, choroid, and conjunctiva. During diagnosis, these clinical symptoms may cause interpretation and, possibly, substitution therapy evaluating difficulties. Retinal changes in Gaucher’s disease are poorly understood, but they are an important symptom of this disease, which dynamically visualizes and evaluates the substrate deposition in the preretinal and intraretinal layers. The effectiveness of replacement therapy based on the presence of retinal lesions remains controversial.
Herein, presented the description of a clinical case of a 10-year-old boy with ocular manifestations of Gaucher’s disease, a rare orphan disease. The comprehensive ophthalmological examination results revealed preretinal changes in whitish foci in the paramacular zone, microstructural changes in the central retina according to optical coherence tomography, and moderate changes in retinal functions according to electroretinogram, as well as visual field defects and decreased light sensitivity. The revealed changes indicate a violation of metabolic processes in the retinal layers of the eye, which leads to retinal foci (gosher) formation. Noninvasive visualization of these deposits helps assess the disease course and the substitution therapy effectiveness. The management of patients with Gaucher’s disease requires an interdisciplinary approach with the mandatory involvement of an ophthalmologist.
作者简介
Ljudmila Kogoleva
Helmholtz National Medical Research Center of Eye Diseases
Email: bobrula1980@mail.ru
ORCID iD: 0000-0002-2768-0443
Dr of Med.Sci
俄罗斯联邦, 14/19, Sadovaya-Chernogriazskaya street, Moscow, 105062Julija Bobrovskaja
Helmholtz National Medical Research Center of Eye Diseases
编辑信件的主要联系方式.
Email: bobrula1980@mail.ru
ORCID iD: 0000-0001-9855-2345
doctor-ophthalmologist, pediatric clinic
俄罗斯联邦, 14/19, Sadovaya-Chernogriazskaya street, Moscow, 105062Sergey Milash
Helmholtz National Medical Research Center of Eye Diseases
Email: sergey_milash@yahoo.com
ORCID iD: 0000-0002-3553-9896
SPIN 代码: 5224-4319
MD, Phd, Cand. Sci. Med.
俄罗斯联邦, 14/19, Sadovaya-Chernogriazskaya street, Moscow, 105062参考
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