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Fundus photograph of the left eye showing a micro angioma in front of a superior temporal retinal artery branch.
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Introduction
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterised by the development of multiple vascularised tumours, particularly cerebellar, retinal and/or visceral. The disease can occur at any age and usually starts with retinal hemangioblastomas...
Context in source publication
Context 1
... The anterior segment was normal. Tonometry was within normal limits. A myosis fundus revealed a normal posterior pole with a suspect vascular lesion over a branch of the superior temporal vascular arch of the right eye. The funds examination after pupillary dilation showed an uncomplicated bilateral hemangioma with no other associated signs. Fig. ...
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Citations
... Fluorescein angiography remains the gold standard for identifying small angiomas, juxta papillary angiomas or angiomas obscured by epiretinal membrane [3] Fluorescein angiography shows early hyperfluorescence and late leakage. ...
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterised by the development of multiple vascularised tumours, particularly cerebellar, retinal and/or visceral. The disease can occur at any age and usually starts with retinal hemangioblastomas We report the case of A 17 years old patient with VHL family history who presented with progressive unilateral decrease of visual acuity evolving for 6 months. The fundus examination showed a retinal examination with significant edema. The fluorescein angiography confirmed the diagnosis. The Brain MRI and the abdominal CT scan were normal. The patient had to undergo photocoagulation of the retinal lesions Management of patients with VHL disease often requires a multidisciplinary approach. The role of the ophthalmologist is important in the management of this condition since the ocular involvement may be indicative of the disease.
Background:
Hemangioblastoma typically occurs in the cerebellum, spinal cord, and central nervous system. However, in rare cases, it could occur in the retina or optic nerve. The prevalence of retinal hemangioblastoma is 1 in 73080, and it occurs either alone or as the manifestation of von Hippel Lindau (VHL) disease. Here, we reported a rare case with the imaging features of retinal hemangioblastoma without VHL syndrome, along with the relevant literature review.
Case summary:
A 53-year-old man had progressive swelling, pain and blurred vision in the left eye without obvious inducement for 15 d. Ultrasonography revealed a possible optic nerve head melanoma. Computed tomography (CT) showed punctate calcification on the posterior wall of the left eye ring and small patchy soft tissue density in the posterior part of the eyeball. Magnetic resonance imaging showed slightly hyperintense signal on T1-weighted images and slightly hypointense-to-isointense signal on T2-weighted images at the medial and posterior edges of the left eyeball, a significant enhancement was observed in the contrast-enhanced scans. Positron emission tomography/CT fusion images showed that the glucose metabolism of the lesion was normal. Pathology was consistent with hemangioblastoma.
Conclusion:
Early identification of retinal hemangioblastoma based on imaging features is of great value for its personalized treatment.
