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

Abstract

BackgroundGaucher 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 presentationWe 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.ConclusionsTo 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.

A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades

“…Red cherry spot is no specific sign for Gaucher disease [24], which we could confirm. In our cohort, we could not detect any nerve fiber layer deposits as described by Sawicka-Gutaj et al [22].…”

Ganglion Cell Complex Thinning in Young Gaucher Patients: Relation to Prodromal Parkinsonian Markers

“…Preretinal and intraretinal white spots that were described in patients with GD have been thought to be glucosylceramide deposits in the retina, which ultimately cause vision loss as a result of retinal neuronal cell death. 26 In addition, decreased GCase activity leads to α-synuclein accumulation and deposition in tissues, including the retina, which may play a role in retinal degeneration. 23,27 Moreover, the GD AYAs with associated PFs in our study had significantly thinner GCC thickness, CMT, and AMT than those without PFs, whereas the latter group did not differ from controls.…”

Photo Essay: Retinal Changes in Type 3 Gaucher Disease

“…2 There may be pigmentary changes 3 in the macula and uveitis 4 occurs infrequently. Cherryred spots at the macula and pre retinal deposits 5 have also been occasionally reported.…”