Preretinal White Dots in Adult-Type Gaucher Disease

Wollstein, Gadi; Elstein, Deborah; Strassman, Israel; Seelenfreund, Morton H.; Zylbermann, R; Zimran, Ari

doi:10.1097/00006982-199919060-00019

Cited by 13 publications

(10 citation statements)

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“…Moreover, when compared to the other L444P/L444P patients in this cohort, these five patients presented with systemic and neurologic manifestations that fall in the more severe range. However, this finding is not exclusively associated with genotype L444P/L444P because other cases in the literature have had other genotypes, and it has also been reported in patients with GD1 (Wollstein et al, ).…”

Section: Discussionmentioning

confidence: 77%

“…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, ). However, three of the five patients described here had intact spleens.…”

Section: Discussionmentioning

confidence: 99%

“…Since the eye findings vary among patients with GD3 and change over time, it is important to perform careful periodic ophthalmologic evaluations. Furthermore, white vitreous opacities in the preretinal region have been reported in some patients with GD3, as well as in splenectomized patients with GD1 (Abu‐Asab et al, ; Matos, Gurgel, & Gonçalves, ; Shrier, Barr, & Grabowski, ; Stirnemann et al, ; Wollstein et al, ). When histologic evaluations were performed after vitrectomy in a patient with GD1, the opacities were found to include collections of Gaucher cells (Shrier et al, ).…”

Section: Introductionmentioning

confidence: 99%

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White vitreous opacities in five patients with Gaucher disease type 3

Seehra

Eghbali

Sidransky

et al. 2020

American J of Med Genetics Pt A

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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.

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Section: Discussionmentioning

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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White vitreous opacities in five patients with Gaucher disease type 3

Seehra

Eghbali

Sidransky

et al. 2020

American J of Med Genetics Pt A

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“…The incidence of vitreous opacities was found to be approximately 3% in a series of 80 consecutive patients with type 1 Gaucher disease [6]. Only those who have undergone splenectomy have a tendency to form vitreous aggregates [6].…”

Section: Gaucher Diseasementioning

confidence: 99%

Ocular manifestation of storage diseases

Biswas

Nandi²,

Sridharan³

et al. 2008

Current Opinion in Ophthalmology

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“…Preretinal and intraretinal white spots were described earlier [2][3][4] as mostly occurring in splenectomized patients with Gaucher disease. Their appearance is speculated to be due to higher levels of circulating glucosylceramide in these patients, resulting in manifestations in unusual systemic locations, such as the eye.…”

Section: Introductionmentioning

confidence: 94%

Functional retinal changes in Gaucher disease

Seidova¹,

Kotliar²,

Foerger³

et al. 2008

Doc Ophthalmol

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In Gaucher disease, sphingolipid glucosylceramide is accumulated in cells of the reticulo-endothelial system. This leads to the formation of "Gaucher cells," which are enlarged macrophages. In the eye, circumscript preretinal deposits are a pathognomonic feature. We describe the case of a 23-year-old woman with no subjective complaints but a reduced ERG response, leading to the suspicion that in addition to circumscript deposition diffuse accumulation of metabolic endproducts might be present in the retina in Gaucher patients.

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Preretinal White Dots in Adult-Type Gaucher Disease

Cited by 13 publications

References 0 publications

White vitreous opacities in five patients with Gaucher disease type 3

White vitreous opacities in five patients with Gaucher disease type 3

Ocular manifestation of storage diseases

Functional retinal changes in Gaucher disease

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