2Department of Pediatrics, University Medical Center Hamburg-Eppendorf
At ophthalmic exam, best-corrected visual acuity at 1 meter was 20/63 in the right eye and 1/40 in the left eye. The anterior eye segment examination revealed bilateral conjunctival vessel tortuositas in all four quadrants as well as a bilateral grade 1 cornea verticillata. A clear lens status and an otherwise quite anterior chamber were recorded. Fundus examination exhibited a bilateral optic disc edema with panretinal flame-shaped retinal hemorrhages, peripheral cotton wool spots and a macular edema with ring-shaped extra foveal hard exudates on the left side. (Figure 1) An Optical Coherence Tomography (OCT) examination (Heidelberg Spectral is; Heidelberg Engineering) exposed a leftsided cystoid macular edema (Figure 2) and a right-sided regular foveal impression (not shown) besides bilateral parapapillary subretinal fluid accumulation. We were not able to perform a fundus angiography due to the terminal renal failure and the necessity to perform daily hemodialysis as well as the reduced general health of the patient.
We proposed the diagnosis of a right-sided partial and a left side complete Central Retinal Venous Occlusion (CRVO) and started a monthly intravitreal therapy regime with Bevacizumab (Avastin; Roche) in the left eye.
Ocular manifestations of Fabry disease are cornea verticillata, a whorl-like corneal pattern, cataract, as well as conjunctival and retinal vessel tortuositas. Retinal vascular tortuous it as is present in approximately 20% of patients with Fabry disease and correlates well with disease severity [2, 3]. Ocular complications have rarely been described. Single case reports on retinal arterial occlusion in one patient as well as a case of retinal venous occlusion have been published so far [4, 5].
An increased risk for systemic thromboembolic complications including an increased stroke risk have been described in Fabry disease . Nevertheless, ocular thromboembolic events are rather uncommon, but a sight-threatening complication. This case of a bilateral CRVO in young men with Fabry disease is most likely due to fabry specific retinal vascular abnormalities and highlights Fabry disease as a differential diagnosis of juvenile and presenile CRVO.
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