Ophthalmologic fndings in Gaucher’s disease type III: case report

Matos, Alexis Galeno; Gurgel, Viviane Pinho; Gonçalves, Mariana Caliope

doi:10.5935/0034-7280.20170066

Cited by 3 publications

(3 citation statements)

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“…It is possible that patients with undiagnosed glaucoma, were included. However, as glaucoma is not listed among the GD1-related comorbidities this limitation may affect both cohorts [ 15 , 25 ]. Second, although ND was ruled out by medical history and examination of medical records a full clinical assessment to diagnose ND was not performed.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies regarding ocular involvement in patients with GD1 consist mainly of small case studies [ 13 ]. Furthermore, macular GCL thickness and peripapillary RNFL (pRNFL) thickness as measured by OCT has not been systematically studied in patients with GD and previous reports have demonstrated conflicting results [ 14 , 15 ]. The goal of this study was to prospectively evaluate macular and peripapillary thickness utilizing OCT in a cohort of patients with GD1 compared to healthy controls.…”

Section: Introductionmentioning

confidence: 99%

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Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease

Weill

Zimran

Zadok

et al. 2020

IJMS

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Type-1 Gaucher disease (GD1) is considered to be non- neuronopathic however recent evidence of neurological involvement continues to accumulate. There is limited evidence of retinal abnormalities in GD1. The purpose of this study was to evaluate the retinal findings of patients with GD1. Thirty GD1 individuals and 30 healthy volunteers between the ages 40–75 years were prospectively enrolled. Macular and optic nerve optical coherence tomography (OCT) scans of both eyes of each patient were performed and thickness maps were compared between groups. Patients with a known neurodegenerative disease, glaucoma, high myopia and previous intraocular surgeries were excluded. It was shown that patients with GD1 presented with higher incidence of abnormal pRNFL OCT scan and showed significantly thinner areas of pRNFL and macular ganglion cell complex (GCC) when compared to a healthy control population. Changes in retinal thickness were not associated with GD1 genotype, treatment status, disease monitoring biomarker (lyso-Gb1) and severity score index (Zimran SSI). Further investigations are needed to determine whether these findings possess functional visual implications and if retinal thinning may serve as biomarker for the development of future neurodegenerative disease in this population.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease

Weill

Zimran

Zadok

et al. 2020

IJMS

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“…Gaucher disease Peripapillary RNFL reduction as detected by Matos et al in a GD3 patient is not confirmed by our data. In this case, the authors attributed their findings to either glaucoma of normal pressure or a nervous degeneration [33]. While no other studies have investigated pRNFL in GD3, Weill et.…”

Section: Peripapillary Rnflmentioning

confidence: 71%

Retinal thinning in phenylketonuria and Gaucher disease type 3

Hopf

Schuster

Hennermann

et al. 2021

Graefes Arch Clin Exp Ophthalmol

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Purpose Retinal alterations in inherited metabolic diseases associated with neurodegeneration are poorly studied. The objective was to study retinal thickness, specifically the components of the ganglion cell complex (GCC)—nerve fiber layer (NFL), ganglion cell layer (GCL), and inner plexiform layer (IPL)—using spectral-domain optical coherence tomography (SD-OCT) in two different diseases with potential dopaminergic depletion, phenylketonuria (PKU) and Gaucher disease type 3 (GD3). Methods Retinal layers in 19 patients with PKU, 15 patients with GD3, and 93 healthy individuals were measured using peripapillary ring scan and macular SD-OCT. Linear mixed models were computed including an adjustment for age, sex, and spherical equivalent. We calculated Spearman’s rank correlations between retinal layer measurements and clinical and/or laboratory parameters. Results Thinning of total retinal thickness was found in the macular inner ring (p = 0.002), and outer ring (p = 0.012), sparing the fovea (p = 0.12) in PKU, while in GD3, all subfields were thinned (fovea p < 0.001, inner ring p = 0.047, outer ring 0.07). In both conditions, thinning was most evident in the NFL, GCL, and IPL, while OPL (outer plexiform layer) was thickened. Peripapillary retinal nerve fiber layer measurements remained normal. GCL and IPL in PKU correlated with tyrosine serum concentration. Conclusion Thinning of the NFL, GCL, and IPL, with thickened OPL, are both found in PKU and in GD3. Low dopamine concentrations in the retina might promote these effects. However, these data do not give evidence that retinal measurements can be used as a biomarker for disease severity in patients with GD3.

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Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

et al. 2019

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Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme’s metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme activity. Gaucher’s can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 – present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range from recently described intraocular lesions to disease involving the adnexae, peripheral nerves and brain. In summary, Gaucher can affect most parts of the eye. Rarely is it sight-threatening; some but not all manifestations are amenable to treatment, including with enzyme replacement and substrate reduction therapy. Retinal involvement is rare but patients with ocular manifestations should be monitored and treated early to reduce the risk of progression and further complications. As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions.

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Ophthalmologic fndings in Gaucher’s disease type III: case report

Cited by 3 publications

References 0 publications

Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease

Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease

Retinal thinning in phenylketonuria and Gaucher disease type 3

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

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