Author: Ilias Gkizis (Greece)
Co-authors: Georgios Smoustopoulos, Georgios Bontzos
Purpose
To present a case report of retinal angiomatosis in a young male with von Hippel-Lindau syndrome (VHL) treated in our clinic. We also aim to highlight the significance of the ophthalmologist in the diagnosis and treatment of the affected patients.
Setting/Venue
Ophthalmologic department of Korgialeneio-Mpenakeio, Athens General Hospital of Athens, Hellenic Red Cross.
Methods
In April 2010, a 30-year-old male was suffering from signs and symptoms indicative of raised intracranial pressure. He was admitted in our hospital with intense headaches, multiple episodes of vomiting, neck pain, and gain instability. Therefore, a magnetic resonance (MRI) of the brain was ordered and an hemangioblastoma in his left cerebellar hemisphere and concomitant hydrocephalus were revealed. The patient was operated, a complete removal of the lesion was achieved and he was counselled to perform further systemic and genetic control to exclude VHL syndrome.In November 2011, the patient complained of an intense back pain irradiated to the right thigh. Hence, an MRI was performed and a lesion at the level of T11 vertebrae was revealed. He underwent a complete resection of the lesion, which was confirmed to be a spinal haemangioblastoma. His ophthalmologic examination was unremarkable at the moment. In April 2013, the patient was advised to perform the genetic analysis of the VHL-gene and the result was positive for a mutation which lead to a functional impairment of the gene This was a sporadic case of VHL disease because the past medical history and genetic control of his relatives was negative for the VHL disease.
Results
In February 2017, he returned to our clinic for the ophthalmologic examination and in his right eye there was an orange-red lesion, approximately 1.5 disc diameter in size, located in the supero-temporal periphery. Initially, we decided to observe the lesion for 6 months because the fundoscopic and angiographic signs of exudation and leakage were absent. On the follow up appointment, we repeated the fluorangiography (FAG) and a rapid filling, intense staining and signs of bland leakage were noted. Consequently, treatment with laser photocoagulation in the feader vessel, which was slightly tortuous and dilated, was decided. We noted a partial regression of the lesion after three months of follow up. Based on the fluorangiographic pattern (modest leakage), the size of the lesion (medium sized lesion) and the difficulty the patient had to reach our clinic we decided to further treat the angioma with cryotherapy. Six months after the cryotherapy, the haemangioma was decreased substantially but, still, no total regression was observed. Furthermore, a follow up MRI was scheduled with the subsequent findings: pancreatic and renal cysts without significant changes in the aforementioned period. The patient continues his follow up in our department.
Conlusions
: Retinal hemangioblastoma (RH), also called retinal capillary hemangioma, retinal capillary hemangioblastoma or retinal angioma is a benign neoplasm with vascular features originating in the neurosensory retina or optic disc. Retinal angiomas typically occur in the setting of VHL syndrome. VHL syndrome is an inherited multisystem neoplasia disorder and its cardinal manifestations include: RH, brain and spinal cord hemangioblastoma, renal cell carcinoma, pheocromocytoma, endolymphatic sac tumour, epidymal and broad ligament cystadenomas, pancreatic neuroendocrine tumours and renal and pancreatic cysts. The prompt diagnosis of the retinal angiomatosis is important because the lesions could be treated successfully, with good anatomical and functional results, only if treated early. Otherwise, the rate of complications and loss of vision increases, especially in young patients. Furthermore, we must remember that retinal angiomatosis may be the first clinical sign of VHL disease and, in this case, the ophthalmologist has a very important role in the appropriate management and the early treatment of these patients.
Financial Disclosure
I HAVE NO FINANCIAL DISCLOSURE
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