Von Hippel-Lindau disease is an autosomal dominant inherited disorder causing hemangioblastoma of the central nervous system, retinal hemangioblastomas, renal cell carcinomas, pheochromocytomas, pancreatic and liver cysts, and epididymal cystadenomas. ' Ocular involvement in Von Hippel-Lindau angiomatosis is characterized by a hematomatous vascular lesion composed of retinal capillaries, a large feeder artery, and draining vein.2 As the tumor enlarges, massive leakage from the angioma produces hard exudates and traction membrane formation in the macular area and elsewhere, leading to tractional or secondary rhegmatogenous retinal detachment, glaucoma, and at times, phthisis bulbi later in the course of the disease.3 7 Various treatment modalities were described, including cryo therapy/laser photocoagulation and surgical excision of the tumor mass or removal of the epiretinal membranes after vitrectomy. Varied treatment success was reported depending on the size of the tumor, location, and secondary changes.2,8
This report comprises a rare case of paramacular Von Hippel angioma with tractional macular detachment and premacular fìbrosis. The case was managed successfully by laser photocoagulation, followed by surgical removal of epiretinal membranes and relief of tractional macular detachment.
A 23-year-old female noticed she had low vision in her right eye for 2 months. There was no associated pain, redness, or watering. There were no associated systemic problems. On examination, the best-corrected visual acuity was 20/125 in her right eye and 20/20 in her left eye. Anterior segment and fundus examination was within normal limits in her left eye. Her right eye showed esotropia. Anterior segment examination was within normal limits. Fundus examination of the right eye revealed an agiomatous lesion with a tortuous feeder vessel in the paramacular and the epiretinal membrane, with puckering and tractional detachment of the macula with ectopia of the macula (Figure IA).
She was diagnosed with Von Hippel angioma. A CT scan of the head showed no evidence of cerebral or cerebellar lesions. Ultrasonography of the abdomen showed no hepatic or pancreatic cysts. Renal caliculi were found in the left kidney. Laser photocaogulation (Argon green laser) was done (250 mw/500 ms 200 µ/156 spots). The patient was reviewed after 1 month and then after 3 months. At 3-month follow up, the angioma had reduced in size with a slight decrease in tortuosity of the feeder vessel. However, there was worsening of the tractional elements and the visual acuity had dropped to 20/200. Surgical intervention was advised at this follow up. A 3-port vitrectomy was done with careful dissection of the premacular fibrosis. Retinal folds were left untouched. At 6 month's follow up, her visual acuity was 20/50. Anterior segment examination was within normal limits. Angioma appeared fibrouc and less vascular; retinal folds were less prominent though not flattened completely (Figure IB & 1C). No fresh exudation or epiretinal membrane formation was observed.
Figure 1A. Fundus photograph showing Von Hippel angioma (black arrow pointing to the tesion) with a characteristic enlarged tortuous feeder vessel located temporal to fovea with dense epimacular membrane and tractional macular detachment.
Figure 1 B. Fundus photograph at 1 week postoperative!/ showing complete removal of epiretinal membranes. The main mass of the angioma appeared fibrosed (black arrow). Retinal folds appeared prominent in the macular area.
Figure 1C. Fundus photograph at 3 months postoperatively showing regression of retinal folds and fibrosis of the angioma (black arrow). No recurrence of epimacular membranes or exudates was observed at this follow up or through the G-month postoperative period.
Retinal angioma as a part of Von Hippel-ündau syndrome is known to occur in association with hemangiomas in cerebellum, medulla, or spinal cord.1 Sporadic angiomas also have been described.9 In this patient, the angioma can be mistaken as inflammatory granuloma or double-disc syndrome.8 Inflammatory granuloma was ruled out because of the clear overlying vitreous and absence of edema in the surrounding retina. The presence of tortuous feeder vessels clinches the diagnosis in favor of Von Hippel angioma.8
Von Hippel angioma has been associated with significant visual loss because of intraretinal or subretinal exudation, vitreous hemorrhage, tractional or rhegmatogenous retinal detachment, and macular pucker.3"6 In this case, epimacular membranes and tractional macular detachment are the main reasons for the visual loss.
Macular pucker with epiretinal membrane formation is a recognized complication of peripheral angioma.4'6 Cryotherapy/iaser photocoagulation has been shown to be effective in treating peripheral angioma with macular pucker by spontaneous peeling of the epiretinal membrane months after cryo therapy/laser photocoagulation treatment.4'7 Vitrectomy with peeling of epiretinal membrane was attempted if epiretinal membrane failed to peel-off spontaneously.6 The results after epiretinal membrane peeling were found to be encouraging. In this case, laser photocoagulation tumor mass showed regression, but the fractional elements were increased, resulting in drop in vision. Spontaneous peeling of the epiretinal membranes did not occur. This case demonstrated the worsening of tractional elements after laser photocoagulation unlike what has been reported in the past.4'7 This could be due to proximal location of the angioma to the fovea or because of the presence of dense epimacular membranes before undergoing laser photocoagulation.
Surgical removal of epiretinal membranes relieved the tractional effects on macula, thereby, helped in recovery of vision. I have not noticed any recurrence of epiretinal membrane through the 6-month postoperative period. This case clearly demonstrated the advantage of surgical intervention for persistent traction membranes, once there is regression of the tumor following cryo therapy/laser photocoagulation.
To the best of my knowledge, there were no reports of paramacular angiomas with epiretinal membrane formation; this is the first case report. In this case, since the angioma was paramacular, laser photocoagulation led to worsening tractional effects with a rapid drop in vision that made surgical intervention imperative. In cases with worsening traction membranes, it is wise to intervene early than waiting until late stages because traction may lead to secondary changes in the layers of the neurosensory retina. The same chronology appears logical in cases of angiomatosis retina located more peripherally than in this case of worsened tractional elements following cryotherapy/laser photocoagulation.
1. Meher ER, Moore AT. Von Hippel-Lindau disease. Br J Ophthalmol. 1992:76:743-745.
2. Peyman GA, Rednam KV, Mottow-Lippa L, Flood T. Treatment of large Von Hippel-Lindau tumors by eye wall resection. Ophthalmology. 1983:90:840-847.
3. Machemer R, Williams JM. Pathogenesis and therapy of traction detachment in various retinal vascular diseases. Am J Ophthalmol. 1988;105:170-181.
4. Schwartz PL, Trubowitsch G, Fastenberg DM, Stein M. Macular pucker and retinal angioma. Ophthalmic Surg. 1987;18:677-679.
5. Nicholson DH, Anderson LS, Biodi C. Rhegmatogenous retinal detachment in angiomatosis retinae. Am J phthalmol. 186;101:187-189.
6. McDonald HR, Schatz H, Johnson RN, et al. Vitrectomy in eyes with peripheral retinal angioma associated with traction macular detachment. Ophthalmology. 1996:103:329-335.
7. Palmer JD, Gragoudas ES. Advances in treatment of retinal angiomas. Int Ophthalmal Clin. 1997:37(4): 159-170.
8. Campochiaro PA, Conway BP. Hemangioma like masses of the retina. Arch Ophthalmol. 1988; 106: 1409-1413.
9. Webster A, Meher ER, Bird AC. et al. A clinical and molecular genetic analysis of solitary ocular angioma. Ophthalmology. 1999; 106:623-629.