Vitreous Opacities and Retinal Vascular Abnormalities in Gaucher Disease

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

“…Likewise, tortuosity of the retinal vessels is known from other lysosomal storage diseases such as Fabry disease and alpha-mannosidosis. Unlike the isolated finding of tortuosity in our cohort, a previously reported case of GD showed severe tortuosity with extensive opacities in the vitreous body accompanied by visual impairment [44]. Red cherry spot is no specific sign for Gaucher disease [24], which we could confirm.…”

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

“…Likewise, tortuosity of the retinal vessels is known from other lysosomal storage diseases such as Fabry disease and alpha-mannosidosis. Unlike the isolated finding of tortuosity in our cohort, a previously reported case of GD showed severe tortuosity with extensive opacities in the vitreous body accompanied by visual impairment [44]. Red cherry spot is no specific sign for Gaucher disease [24], which we could confirm.…”

Vitreous Hemorrhage in Type 3 Gaucher Disease: An Angiographic and Pathologic Analysis

“…12 Previous vitrectomy specimens in patients with Gaucher disease have revealed the presence of Gaucher cells (macrophages laden with glycolipid products) and high concentrations of glucosylceramide seen on thin-layer chromatography. 4 The pathology in this case revealed similar Gaucher cells (Figure 5).…”

“…Overall, these histopathologic features are consistent with intraocular involvement of Gaucher disease. There are previous reports of Gaucher cells with wrinkled cytoplasm from vitreous biopsy in two other cases, 4,9 but here, we include additional stains (CD68 and CD163) to confirm their histiocytic nature.…”

White vitreous opacities in five patients with Gaucher disease type 3

“…Patients with white vitreous opacities often complain of “floaters” which are due to the blocking of light by these opacities, casting a shadow on the retina (Shrier et al, ). In most previously published reports describing these white opacities in patients with GD, the subjects had undergone splenectomy (Wollstein et al, ).…”

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

“…Likewise, tortuosity of the retinal vessels is known from other lysosomal storage diseases such as Fabry disease and alpha-mannosidosis. Unlike the isolated finding of tortuosity in our cohort, a previously reported case of GD showed severe tortuosity with extensive opacities in the vitreous body accompanied by visual impairment [44]. Red cherry spot is no specific sign for Gaucher disease [24], which we could confirm.…”

Vitreous Hemorrhage in Type 3 Gaucher Disease: An Angiographic and Pathologic Analysis

“…12 Previous vitrectomy specimens in patients with Gaucher disease have revealed the presence of Gaucher cells (macrophages laden with glycolipid products) and high concentrations of glucosylceramide seen on thin-layer chromatography. 4 The pathology in this case revealed similar Gaucher cells (Figure 5).…”

“…Overall, these histopathologic features are consistent with intraocular involvement of Gaucher disease. There are previous reports of Gaucher cells with wrinkled cytoplasm from vitreous biopsy in two other cases, 4,9 but here, we include additional stains (CD68 and CD163) to confirm their histiocytic nature.…”

White vitreous opacities in five patients with Gaucher disease type 3

“…Patients with white vitreous opacities often complain of “floaters” which are due to the blocking of light by these opacities, casting a shadow on the retina (Shrier et al, ). In most previously published reports describing these white opacities in patients with GD, the subjects had undergone splenectomy (Wollstein et al, ).…”

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

“…Likewise, tortuosity of the retinal vessels is known from other lysosomal storage diseases such as Fabry disease and alpha-mannosidosis. Unlike the isolated finding of tortuosity in our cohort, a previously reported case of GD showed severe tortuosity with extensive opacities in the vitreous body accompanied by visual impairment [44]. Red cherry spot is no specific sign for Gaucher disease [24], which we could confirm.…”

Vitreous Hemorrhage in Type 3 Gaucher Disease: An Angiographic and Pathologic Analysis

“…12 Previous vitrectomy specimens in patients with Gaucher disease have revealed the presence of Gaucher cells (macrophages laden with glycolipid products) and high concentrations of glucosylceramide seen on thin-layer chromatography. 4 The pathology in this case revealed similar Gaucher cells (Figure 5).…”

“…Overall, these histopathologic features are consistent with intraocular involvement of Gaucher disease. There are previous reports of Gaucher cells with wrinkled cytoplasm from vitreous biopsy in two other cases, 4,9 but here, we include additional stains (CD68 and CD163) to confirm their histiocytic nature.…”

White vitreous opacities in five patients with Gaucher disease type 3

“…Patients with white vitreous opacities often complain of “floaters” which are due to the blocking of light by these opacities, casting a shadow on the retina (Shrier et al, ). In most previously published reports describing these white opacities in patients with GD, the subjects had undergone splenectomy (Wollstein et al, ).…”