Еye manifestations of Gaucher’s disease

Abstract

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.

Keywords

Gaucher’s disease / gaucheromas / retina / sphingolipidosis

References

[1] Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. 2017;18(2). doi: 10.3390/ijms18020441

[2] Stirnemann J., Belmatoug N., Camou F., et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments // Int J Mol Sci. 2017. Vol. 18, N 2. P. doi: 10.3390/ijms18020441

[3] Anand S, Kidd D, Hughes D. Photo Essay: Retinal Changes in Type 3 Gaucher Disease. Neuroophthalmology. 2018;42(6):402–403. doi: 10.1080/01658107.2017.1420084

[4] Anand S., Kidd D., Hughes D. Photo Essay: Retinal Changes in Type 3 Gaucher Disease // Neuroophthalmology. 2018. Vol. 42, N 6. P. 402–403. doi: 10.1080/01658107.2017.1420084

[5] Sawicka-Gutaj N, Machaczka M, Kulinska-Niedziela I, et al. The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy. Ups J Med Sci. 2016;121(3):192–195. doi: 10.3109/03009734.2016.1158756

[6] Sawicka-Gutaj N., Machaczka M., Kulinska-Niedziela I., et al. The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy // Ups J Med Sci. 2016. Vol. 121, N 3. P. 192–195. doi: 10.3109/03009734.2016.1158756

[7] Jaime S, Dalmas MF. [A case of Gaucher’s disease associated with peripheral retinal ischemia]. J Fr Ophtalmol. 1989;12(6-7):461–463.

[8] Jaime S., Dalmas M.F. [A case of Gaucher’s disease associated with peripheral retinal ischemia] // J Fr Ophtalmol. 1989. Vol. 12, N 6-7. P. 461–463.

[9] Hopf S, Pfeiffer N, Liesenfeld M, et al. A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades. Orphanet J Rare Dis. 2019;14(1):257. doi: 10.1186/s13023-019-1244-9

[10] Hopf S., Pfeiffer N., Liesenfeld M., et al. A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades // Orphanet J Rare Dis. 2019. Vol. 14, N 1. P. 257. doi: 10.1186/s13023-019-1244-9

[11] Federal clinical guidelines. «Gaucher disease in children». 2016. Available at: http://astgmu.ru/wp-content/uploads/2018/10/Bolezn-Goshe-u-detej-2016.pdf (In Russ).

[12] Федеральные клинические рекомендации «Болезнь Гоше у детей». 2016. Режим доступа: http://astgmu.ru/wp-content/uploads/2018/10/Bolezn-Goshe-u-detej-2016.pdf

RIGHTS & PERMISSIONS

Eco-Vector