The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy

Abstract

Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.g. corneal clouding, retinal lesions, and vitreous opacities) have been infrequently reported in GD type 3 (GD3). Moreover, there are virtually no published data on the occurrence and natural course of intraocular lesions in GD3 patients treated with enzyme replacement therapy (ERT). Case presentation We describe the case of a 26-year-old Polish male with L444P homozygous GD3 (mutation c.1448T > C in the GBA1 gene) who developed fundus lesions despite 10 years of ERT. At the age of 23 years, a spectral domain optical coherence tomography (OCT) examination was performed which disclosed the presence of discrete lesions located preretinally, intraretinally in the nerve fiber layer, and in the vitreous body. A 3-year follow-up OCT examination has not shown any significant progression of the fundus lesions. Conclusions To the best of our knowledge, this is the first published report describing the occurrence of newly identified retinal and preretinal lesions occurring during long-term ERT in GD3. We recommend that a careful ophthalmic assessment, including a dilated fundus examination, should be included as part of annual follow-up in patients with GD3. Further studies are needed to understand the nature and clinical course of these changes and whether or not these intraocular findings have any predictive value in the context of neurologic and skeletal progression in GD3.

Keywords: Enzyme replacement therapy; Gaucher disease type 3; intraocular lesions; neuronopathic; optical coherence tomography; retina.

Figure 1.

The patient’s plasma chitotriosidase activity measured annually since the age of 14 years. The patient’s ERT was discontinued for 4 months at 20 years of age, causing a sharp increase in his plasma chitotriosidase activity.

Figure 2.

Photographs of the patient’s right eye fundus. A: posterior pole; B: periphery of the fundus. White spots overlie retinal vessels.

Figure 3.

Photographs of the patient’s left eye fundus. A: posterior pole; B: periphery of the fundus. White spots present along retinal vessels with a distribution of changes similar to that seen in the right eye.

Figure 4.

Optical coherence tomography images taken in January 2012 (A, B) showing (1) intravitreal, (2) preretinal, and (3) intraretinal (in the nerve fiber layer) locations of the deposits in the presented patient with Gaucher disease type 3.