|Ahead of print publication
Aggressive-fungating retinal hemangioblastoma
Sudha Girish Menon1, Girish Menon Ramachandran2, Mridula Jacob1, Ajay Hegde2, Kanthilatha Pai3
1 Department of Ophthalmology, Kasturba Medical College, Manipal, Karnataka, India
2 Department of Neurosurgery, Kasturba Medical College, Manipal, Karnataka, India
3 Department of Pathology, Kasturba Medical College, Manipal, Karnataka, India
Sudha Girish Menon,
Department of Neurosurgery, Kasturba Medical College, Manipal - 576 104, Karnataka
Source of Support: None, Conflict of Interest: None
Retinal hemangioblastomas are one of the most common and early manifestations of Von Hippel–Lindau disease. Early detection is the key in their management. When left untreated, these benign neoplasms may continue to grow and result in scleral infiltration and extraocular extension warranting enucleation of the globe.
Keywords: Enucleation, fungating, hemangioblastoma, retina
| > Introduction|| |
Von Hippel–Lindau (VHL) disease is an autosomal dominant inherited disorder characterized by multisystem involvement of the retina, central nervous system, kidney, pancreas, and liver. Retinal hemangioblastoma is one of the most common and early manifestations of this disease. Early detection and management is essential to prevent blindness. Here, we report an unusual case of a 37-year-old woman with known VHL disease who presented with total blindness, a painful blind eye in the right side and a fungating bleeding mass with scleral penetration, and extraocular extension in the left eye which ultimately required enucleation.
| > Case Report|| |
A 37-year-old woman presented with blindness in both eyes (no perception of light) and recurrent bleeding from a fleshy vascular extraorbital mass protruding from her left eye. She was a known case of VHL disease and had twice undergone surgery in the past, first for a cerebellar hemangioblastoma 12 years back and subsequently for a cervicomedullary hemangioblastoma 9 years back. She was also diagnosed to have bilateral renal cell carcinoma which was treated by radiotherapy. On clinical examination, she had no perception of light in both the eyes. The right eye [Figure 1] showed dilated and tortuous conjunctival and episcleral vessels with almost total corneal opacification. The intraocular pressure was 30 mmHg. Visibility of the other intraocular structures was obscured by the corneal opacification. The left orbit [Figure 2] showed a vascular fleshy mass which totally obscured her eyelids. None of the anterior segment structures was visible. On retraction of the lesion, dilated tortuous vessels were observed over the conjunctiva which appeared inflamed. The lesion was extremely vascular and would bleed on minimal friction. Computed tomography scan [Figure 3] revealed a hypodense area of 2.0 cm × 2.9 cm × 2.4 cm (AP × TR × CC) arising from the left globe and protruding anteriorly with intraocular calcification. The lens was not visualized separately. Magnetic resonance imaging of the orbit [Figure 4] revealed altered signal intensity lesions isointense to hyperintense on T1 and heterogeneously hyperintense on T2 and showing significant postcontrast enhancement noted in both globes (measuring ~ 4.1 cm × 2.7 cm × 2.6 cm on the left side with anterior extraocular component and measuring 2.1 cm × 1.9 cm on the right side). Few foci of T1 hypointensities noted (calcification) were also observed in the intraocular region. Enucleation of the left eye was performed to enable total excision of the lesion. The conjunctiva overlying the lesion appeared inflamed and vascular. Meticulous coagulation of the conjunctiva was performed before incising it. The lesion was circumferentially coagulated and dissected out. The tumor filled the vitreous cavity pushing the lens and anterior segment structures anteriorly. Remnants of the lens were observed within the fungating mass and the sclera was intact all around, suggesting auto-evisceration of the eye. The optic nerve was eventually resected to deliver the lesion. The entire specimen weighed around 17 g and measured 5 cm × 3 cm × 2 cm in dimensions [Figure 5]. Cut section of the tumor showed yellow areas with focal hemorrhage and cystic areas. Microscopic examination revealed a conjunctiva-covered tumor composed of proliferating thin-walled capillaries and cavernous spaces of varying sizes lined by plump endothelial cells, engorged with blood, surrounded by stromal cells with eosinophilic to clear foamy cytoplasm with fine vacuoles, hyperchromatic nuclei, lymphoplasmacytic infiltrate, areas of stromal fibrosis, hyalinization, and calcification. Many thick-walled vessels with fibrinoid necrosis of the walls were also observed. The major part of the retina, choroid, and vitreous were replaced by the lesion. No mitotic figures were identified. The resected optic nerve end was free of tumor [Figure 6]a and [Figure 6]b.
|Figure 1: The right eye showing dilated and tortuous conjunctival and episcleral vessels with almost total corneal opacification|
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|Figure 2: The left orbit showing an exophytic vascular fleshy mass which totally obscures her eyelids (a). None of the anterior segment structures were visible. On retraction of the lesion, dilated tortuous vessels were seen over the upper conjunctiva (b), medial conjunctiva (c), and lower conjunctiva (d) which appears inflamed|
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|Figure 3: CT scan images (a) Axial and (b) Coronal showing a hypo dense lesion measuring 2.0 x 2.9 x 2.4 cm (AP x TR x CC) arising from the left globe and protruding anteriorly with intra-ocular calcification. The lens was not visualized separately|
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|Figure 4: MRI axial and sagittal images of the orbit showing altered signal intensity lesions isointense to hyper intense on T1 (c) and heterogeneously hyperintense on T2 (b) and showing significant post contrast enhancement (a and d) noted in both globes (measuring ~ 4.1x2.7x2.6cm on left side with anterior exophytic component and measuring 2.1x1.9cm on the right side). Few foci of T1 hypo intensities noted (calcification) are also seen in the intraocular region|
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|Figure 5: The entire enucleated specimens including the globe, fungating mass, weighing around 17 gm and measured 5 cm × 3 cm × 2 cm in dimensions|
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|Figure 6: (a) Photomicrograph showing tumor with two components – Stromal cells and numerous thin-walled vessels of varying sizes, some engorged with blood (H and E, ×100). (b) Higher magnification shows stromal cells having abundant clear cytoplasm and intervening dilated and compressed thin-walled vessels (H and E, ×200)|
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| > Discussion|| |
Retinal hemangioblastomas are the most common manifestations of VHL disease and are the initial manifestations of the disease in majority of cases. Early diagnosis and management with laser photocoagulation and cryotherapy can prevent devastating complications in the eye. Highly aggressive hemangioblastomas with extraorbital extension have been seldom reported. Chew in his case series of 406 patients with VHL found 23.4% of cases with optic nerve involvement but no case with extrascleral extension. Wong et al. described a case series of 14 patients with VHL, and none of them presented with extraocular extension. Singh et al. studied 68 cases with retinal hemangiomas in their study and reported no extrascleral extension. Rodrigues et al. reported a case in which a retinal hemangioblastoma infiltrated the sclera and eye wall and was managed by enucleation. Our report probably is the first instance of a case with such a florid manifestation of ocular lesions in a patient with VHL complex.
Although the patient was diagnosed to have VHL complex and undertook treatment for her central nervous system and renal tumors, she preferred not to undergo any treatment for the eyes for several years. She was started on antiglaucoma medications for the right eye and was advised enucleation of the left eye several years back, but she did not go for any review subsequently. It was the repeated episodes of bleeding which made her consider surgery for the ocular pathology.
Retinal hemangioblastomas are indolent vascularized tumors that are believed to be of a congenital, benign, and neoplastic process. Even with early aggressive management, VHL-associated retinal hemangioblastomas may continue to grow and scleral infiltration and extraocular extension are possibilities. Enucleation is the only surgical option in such patients. This further supports the need for continued investigation into the early and aggressive treatment of these enigmatic vascularized tumors.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
| > References|| |
Chew EY. Ocular manifestations of von Hippel-Lindau disease: Clinical and genetic investigations. Trans Am Ophthalmol Soc 2005;103:495-511.
Wong WT, Yeh S, Chan CC, Kalina RE, Kinyoun JL, Folk JC, et al.
Retinal vascular proliferation as an ocular manifestation of von Hippel-Lindau disease. Arch Ophthalmol 2008;126:637-43.
Singh AD, Nouri M, Shields CL, Shields JA, Perez N. Treatment of retinal capillary hemangioma. Ophthalmology 2002;109:1799-806.
Rodrigues M, Iliff NT, Eberhart CG, Montaner S, Sodhi A. Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. Can J Ophthalmol 2013;48:e67-71.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]