White vitreous opacities in five patients with Gaucher disease type 3

Abstract

Fundal abnormalities, including preretinal and retinal changes, are a rare finding in patients with the autosomal recessive lysosomal storage disorder Gaucher disease, most often described in patients with the chronic neuronopathic form (type 3). We evaluated whether these ophthalmological findings correlated with other manifestations of type 3 Gaucher disease. Reviewing the records of 40 patients with type 3 Gaucher disease, we identified five with white vitreous opacities and reviewed their clinical course in depth. Each of the patients described decreased visual acuity and “floaters” obstructing their vision. The development and/or progression of these fluffy‐appearing white opacities in each patient were tracked longitudinally in the context of their neurological and other clinical findings. It was noted that all five patients shared genotype p.L483P/p.L483P (L444P/L444P) and had significant neurological, oculomotor and bone involvement and two had undergone splenectomy. Enzyme replacement therapy with recombinant glucocerebrosidase did not prevent the development or progression of these ocular opacities. Since preretinal findings, in addition to other neuro‐ophthalmological findings, can be a feature of Gaucher disease, it is recommended that patients be monitored by regular eye examinations.

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

“…Ocular preretinal deposits have previously been reported in only ~3% of 80 patients with GD1 [2]. In GD3 patients, reports of ocular manifestations are also infrequent and include corneal opacification and pinguecula, cherry red maculae, and retinal lesions typical of the preretinal accumulation of glycolipids [10,11,12]. Some reports document progression of vitreous opacities despite ERT [8,13].…”

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

“…Ocular preretinal deposits have previously been reported in only ~3% of 80 patients with GD1 [2]. In GD3 patients, reports of ocular manifestations are also infrequent and include corneal opacification and pinguecula, cherry red maculae, and retinal lesions typical of the preretinal accumulation of glycolipids [10,11,12]. Some reports document progression of vitreous opacities despite ERT [8,13].…”

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

“…Ocular preretinal deposits have previously been reported in only ~3% of 80 patients with GD1 [2]. In GD3 patients, reports of ocular manifestations are also infrequent and include corneal opacification and pinguecula, cherry red maculae, and retinal lesions typical of the preretinal accumulation of glycolipids [10,11,12]. Some reports document progression of vitreous opacities despite ERT [8,13].…”

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

“…Ocular preretinal deposits have previously been reported in only ~3% of 80 patients with GD1 [2]. In GD3 patients, reports of ocular manifestations are also infrequent and include corneal opacification and pinguecula, cherry red maculae, and retinal lesions typical of the preretinal accumulation of glycolipids [10,11,12]. Some reports document progression of vitreous opacities despite ERT [8,13].…”