Occlusion d'une branche de l'artère rétinienne chez un patient avec une maladie de Gaucher
Plusieurs études ont déjà rapporté des manifestations oculaires au cours de la maladie de Gaucher (strabisme, ptérygion, opacités cornéennes et vitréennes, atteinte rétinienne) mais voici le premier cas d’occlusion d’une branche de l’artère rétinienne survenue à l’âge de 27 ans chez un homme dont le diagnostic de maladie de Gaucher était connu depuis l’âge de 19 ans. Il avait arrêté 2 mois plutôt son enzymothérapie substitutive par imiglucérase et se plaignait d’un flou visuel au niveau de l’œil gauche. L’angiographie à la fluorescéine a montré une obstruction de la branche temporale inférieure de l’artère rétinienne gauche et la tomographie à cohérence optique un épaississement des couches internes de la rétine gauche. Après 4 semaines de corticothérapie associée à la reprise de l’enzymothérapie substitutive, le patient a récupéré une bonne acuité visuelle de l’œil gauche (20/20) tandis que le fond d’œil montrait la persistance d’un vaisseau rétinien temporo-inférieur sclérotique mais avec une nette diminution de l’œdème rétinien, et l’OCT un amincissement important dû à l’atrophie des couches rétiniennes internes. Les perturbations hématologiques et hémorrhéologiques constatées au cours de la maladie de Gaucher sont probablement à l’origine de ses nombreuses manifestations vasculaires (nécrose, hypertension pulmonaire) avec participation étiologique de microthrombi qui pourraient aussi, selon les auteurs, être en cause dans l’occlusion de l’artère rétinienne chez ce patient; à cette hypothèse pathogénique s’ajoute celle d’une inflammation associée des parois vasculaires, déjà observée ailleurs et pouvant expliquer l’impact des corticoïdes.



A branch retinal artery occlusion in a patient with Gaucher disease

Alice Bruscolini1, Maria Pia Pirraglia1, Lucia Restivo1, Giovanni Spinucci1 and Alessandro Abbouda1

1 Ocular Immunovirology Service, Department of Ophthalmology, Sapienza University of Rome, V.le del Policlinico 155, 00161 Roma, Italy.

Without Abstract

Table of contents


Gaucher disease (GD) is a rare familial autosomal recessive disorder of lipid metabolism, resulting in an accumulation of abnormal glucocerebrosides in the reticulo-endothelial system. Patients with GD may present with hepatosplenomegaly, anemia, thrombocytopenia, and destructive bone disease. An enzyme replacement therapy with intravenous infusions of glycosylceramidase has been successfully proposed for treating the visceral manifestations. Gaucher disease can be divided into three subtypes: non-neuronopathic (type 1) which is the most common, acute neuronopathic (type 2), and subacute neuronopathic (type 3) [1]. Several studies have reported ocular manifestations such as strabismus, conjunctival pterygia, corneal opacities, vitreous opacities and retinal involvement [2-7].

To our knowledge, this is the first reported case of Gaucher disease complicated by branch retinal artery occlusion.

Materials and methods

A 27-year-old man, with a diagnosis of Gaucher disease since he was 19 years old, presented at the Immunovirology Center of the Sapienza University of Rome, complaining of blurred vision in the left eye which had commenced 7 days before. He was treated with imiglucerase injection every 2 weeks, with good control of symptoms. He interrupted by choice the enzyme replacement therapy 2 months before our observation. We studied the course of ocular disease with fluorescein angiography using the Topcon Imagenet H1024 digital imaging system (Topcon Europe, The Netherlands), indocyanine green angiography, and Spectralis optical coherence tomography (Spectralis OCT, Heidelberg Engineering, Heidelberg, Germany) at 0, 2 and 4 weeks [8]. At follow-up time, MP-1 microperimetry (Nidek Technologies, Padova, Italy) was performed to provide a retinal visual function map. Humphrey automated threshold perimetry (program 30-2) was also performed to detect any visual field defect.


On the first examination, best-corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. Anterior segment examination, pupil responses and intraocular pressure were normal in both eyes. Fundus examination of the left eye disclosed a sclerotic infero-temporal artery with minimal perivascular exudation. Fluorescein angiography showed, in the left eye, delayed and interrupted filling of the temporal inferior branch of retinal artery. Filling of the temporal inferior venous branch appeared slightly delayed too. Ischemic hypofluorescence in the surrounding area and fluorescein staining due to retinal edema were also described. The choroidal filling on indocyanine green angiography was normal. Optical coherence tomography (OCT) revealed an increased thickness of the inner nuclear, inner plexiform and ganglion cell/nerve fiber layers. Cross-sectional image through the fovea revealed that the inner segment-outer (IS-OS) line was intact (Fig. 1). A diagnosis of left inferior branch retinal artery occlusion was made. Fundus examination, fluorescein angiography, indocyanine green angiography and OCT of the right eye were normal. The cardiological examination and routine blood testing were normal. The determination of the most common thrombophilic defects (antithrombin, protein C, protein S deficiencies, Factor V Leiden and MTHFR, prothrombin G20210A, Anticardiolipin IgG and IgM antibodies,) was negative. His substances history was negative for drugs, tobacco, and alcohol. The patient was started on a reducing course of oral prednisone and enoxaparin 40 mg once a day which was administered by subcutaneous injection. The corticosteroid therapy began at 0.7 mg/kg/day once a day for the first 7 days and then the prednisone dose was gradually tapered off 0.2 mg/kg every week. He started again the enzyme replacement therapy. After 2 weeks of therapy, visual acuity reduced 25/32 in the left eye and 20/20 in the right eye. Fundus examination disclosed an enlarged and well-demarcated area of retinal ischemic edema and a further proximal occlusion of the same vessel, surrounding the macula. OCT scan disclosed a marked thickening of the inner plexiform and nuclear layers in the corresponding retinal region (Fig. 2a). The oral dose of corticosteroid was then increased again to 0.7 mg/kg/day, with tapering as permitted by clinical response (0.2 mg/kg every week). After 4 weeks of therapy, there was a recovery of good visual acuity (20/20). Fundus examination revealed a sclerotic retinal vessel in the same region and a significant resolution of the ischemic edema. OCT disclosed a marked thinning due to atrophy of the inner retinal layers (Fig. 2b). Visual field testing and MP-1 microperimetry revealed a partial defect corresponding to the area of occlusion (Fig. 3). The patient refused to have a repeat fluorescein angiogram at this time.

Fig 1.

Fig 2.

Fig 3.


Several authors reported a vitreo-retinal involvement in GD [2-4]. They mostly described vitreous opacities, severe vitritis and retinal/pre-retinal deposits probably consisting of clusters of swollen histiocytes (Gaucher cells). To date there are no reports about branch retinal artery occlusion in GD, while haematological and haemorheological alterations in such a disease have been widely reported. These alterations may explain the high incidence of vascular accidents in GD like avascular necrosis and pulmonary hypertension. The results of a recent study [9] hypothesize that microthrombi may be part of the etiology for avascular necrosis as well as pulmonary hypertension in patients with GD and enoxaparin might be beneficial to prevent their appearance or recurrence. We hypothize a similar pathogenesis for the retinal artery occlusion of our patient. Furthermore, it has been previously reported that GD may be accompanied by low grade subclinical inflammation on the wall of the vessels [9, 10]. Corticosteroids might have influenced and down-modulated this low-grade inflammation. This low-grade inflammation might be accompanied by enhanced concentrations of adhesive macromolecules in the peripheral blood. Enhanced synthesis of acute phase response proteins has been hyphothesized to have a damaging rheological effect. An increased ability of erythrocytes to aggregate might be induced and/or maintained by multiple inflammation sensitive proteins [11]. This pathological aggregation may reduce capillary perfusion and oxygen transfer to tissues and cause ischemia and tissue infarction that might theoretically play a role in skeletal damage, in lung involvement and also in ocular involvement like in our patient suffering from retinal artery occlusion.

Fig 1 . Fundus color photograph, fluorescein angiography, fundus imaging by confocal scanning laser ophthalmoscopy and optical coherence tomography at time 0

Fig 2 . Fundus color photograph and fundus imaging by confocal scanning laser ophthalmoscopy and optical coherence tomography at 2 weeks (a) and 4 weeks (b)

Fig 3 . Humphrey automated threshold perimetry program 30-2 (left) and MP-1 microperimetry (right) at follow-up time


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Graefe's Archive for Clinical and Experimental Ophthalmology 2011; aop: 10.1007/s00417-011-1745-2