Progression of retinal changes in Gaucher disease: a case report

Coussa, Razek Georges; Roos, Jonathan C. P.; Aroichane, Maryam; Miron, M-C; Ospina, Luis H.

doi:10.1038/eye.2013.180

Cited by 8 publications

(7 citation statements)

References 6 publications

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“…In the case presented here, the reported lesions appeared despite long-term glucocerebrosidase replacement therapy. One possible explanation for this finding is the large molecular size of recombinant glucocerebrosidase, which prevents it from crossing the blood–brain barrier, therefore not allowing it to reach the eye, as postulated by Coussa and colleagues ( 21 ). Similar to the patient with GD3 described by Coussa et al., our patient had normal visual acuity and ERG findings.…”

Section: Discussionmentioning

confidence: 93%

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

Sawicka‐Gutaj

Machaczka

Kulińska-Niedziela

et al. 2016

Upsala Journal of Medical Sciences

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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.

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Section: Discussionmentioning

confidence: 93%

“…Intraocular lesions have been infrequently reported in patients with GD3 ( 16 , 21 ). In the case presented here, the reported lesions appeared despite long-term glucocerebrosidase replacement therapy.…”

Section: Discussionmentioning

confidence: 99%

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

Sawicka‐Gutaj

Machaczka

Kulińska-Niedziela

et al. 2016

Upsala Journal of Medical Sciences

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“…Two reports have shown increases in these accumulations over time without significant reductions in visual acuity, possibly due to foveal sparing (figure 1). 92 116 To date, only two studies have reported abnormal ERG (reduced b-wave) in patients with GD with pre-retinal white spots,117 118 while another showed a preserved ERG signal 92…”

Section: Discussionmentioning

confidence: 99%

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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“…First descriptions on posterior segment abnormalities in Gaucher patients, before enzyme replacement therapy was established, focused on vitreous opacities [41, 42]. Recent case reports confirmed vitreous opacities, condensations, preretinal hyperreflective dots and posterior vitreous detachment by OCT [21, 23] [24]. Sheck et al [23] located a hyperreflective preretinal accumulation between the posterior hyaloid interface and the nerve fiber layer of the retina in the mid peripheral and perimacular area (as also shown in Fig.…”

Section: Discussionmentioning

confidence: 99%

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

Hopf

Pfeiffer

Liesenfeld

et al. 2019

Orphanet J Rare Dis

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SummaryBackgroundThe differentiation between Gaucher disease type 3 (GD3) and type 1 is challenging because pathognomonic neurologic symptoms may be subtle and develop at late stages. The ophthalmologist plays a crucial role in identifying the typical impairment of horizontal saccadic eye movements, followed by vertical ones. Little is known about further ocular involvement. The aim of this monocentric cohort study is to comprehensively describe the ophthalmological features of Gaucher disease type 3. We suggest recommendations for a set of useful ophthalmologic investigations for diagnosis and follow up and for saccadometry parameters enabling a correlation to disease severity.MethodsSixteen patients with biochemically and genetically diagnosed GD3 completed ophthalmologic examination including optical coherence tomography (OCT), clinical oculomotor assessment and saccadometry by infrared based video-oculography. Saccadic peak velocity, gain and latency were compared to 100 healthy controls, using parametric tests. Correlations between saccadic assessment and clinical parameters were calculated.ResultsPeripapillary subretinal drusen-like deposits with retinal atrophy (2/16), preretinal opacities of the vitreous (4/16) and increased retinal vessel tortuosity (3/16) were found. Oculomotor pathology with clinically slowed saccades was more frequent horizontally (15/16) than vertically (12/16). Saccadometry revealed slowed peak velocity compared to 100 controls (most evident horizontally and downwards). Saccades were delayed and hypometric. Best correlating with SARA (scale for the assessment and rating of ataxia), disease duration, mSST (modified Severity Scoring Tool) and reduced IQ was peak velocity (both up- and downwards). Motility restriction occurred in 8/16 patients affecting horizontal eye movements, while vertical motility restriction was seen less frequently. Impaired abduction presented with esophoria or esotropia, the latter in combination with reduced stereopsis.ConclusionsVitreoretinal lesions may occur in 25% of Gaucher type 3 patients, while we additionally observed subretinal lesions with retinal atrophy in advanced disease stages. Vertical saccadic peak velocity seems the most promising “biomarker” for neuropathic manifestation for future longitudinal studies, as it correlates best with other neurologic symptoms. Apart from the well documented abduction deficit in Gaucher type 3 we were able to demonstrate motility impairment in all directions of gaze.

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Progression of retinal changes in Gaucher disease: a case report

Cited by 8 publications

References 6 publications

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

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

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

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

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