A 17-year-old white female presented with decreased vision in her right eye that has persisted for a month. She reported a sudden loss of vision over a two-day period, which reduced her acuity so significantly that she could see only shadows O.D. She said that her left eye was unaffected.
Her ocular and medical histories were unremarkable. Her last eye examination was approximately six years earlier. She has never worn glasses.
On examination, visual acuity was hand motion (HM) O.D. and 20/20 O.S. Her confrontation visual fields were severely depressed O.D. (she could only detect HM centrally) and full to careful finger counting O.S.
Her pupils were equally round; however, her right eye was less reactive than her left eye, and she demonstrated a strong afferent pupillary defect O.D. Ocular motility testing was normal, and her anterior segment was unremarkable. Her intraocular pressure measured 12mm Hg O.D. and 15mm Hg O.S.
On dilated fundus exam, there were obvious retinal changes O.D. (figure 1). Additionally, we documented significant findings O.S. (figure 2).
1, 2. The right and left eyes of our patient (O.D. left, O.S. right). Note the reddish mass in each eye.
Take the Retina Quiz
1. How would you describe the appearance of our patients right eye?
a. Complete exudative retinal detachment.
b. Complete rhegmatogenous retinal detachment.
c. Macula-on retinal detachment.
d. Choroidal detachment.
2. What do the red lesions O.U. represent?
a. Massive retinal neovascularization (NVE).
b. Choroidal hemangioma.
c. Retinal capillary hemangioma (RCH).
d. Cavernous hemangioma of the retina.
3. What is the correct diagnosis?
a. Vasoproliferative tumors.
b. Racemose hemangioma.
c. Von Hippel-Lindau (VHL) disease.
d. Coats disease.
4. What further testing is necessary?
a. No further testing is necessary.
b. Optical coherence tomography (OCT).
c. Fluorescein angiography.
d. Magnetic resonance imaging (MRI).
5. Which treatment option provides the best chance for stable vision in our patient?
a. Photodynamic therapy (PDT).
b. Retinal detachment repair.
c. Laser photocoagulation O.S.
d. External beam radiotherapy (EBRT).
For answers, see below.
Our patient has a complete exudative retinal detachment O.D. that has resulted from the large, reddish mass seen superiorly. This mass represents a retinal capillary hemangioma that discharged exudative material as it increased in size. She has a similar lesion located inferiorly O.S.; but, it is not as large and the retina is completely attached.
Looking carefully at the hemangioma, an afferent feeder vessel is present that shunts blood to the tumor as it drains the efferent vein. This afferent and efferent vascular system provides a constant blood supply to the tumor that has allowed it to increase in size. When it reached critical mass, progressive intraretinal and subretinal exudation occurred, which caused the exudative retinal detachment O.D. The tumor in her left eye is smaller; however, some exudate can be seen, which indicates that there is leakage from the mass.
So, what is the underlying etiology? The presence of RCHs is an ophthalmologic hallmark of von Hippel-Lindau disease.1 VHL disease is an autosomal dominant, multi-tumor syndrome that can affect multiple organs in the body. In addition to retinal angiomatosis (RA), common lesions associated with VHL disease include hemangioblastoma of the central nervous system, cysts of multiple abdominal organs, pheochromocytoma and renal cancer.1
The incidence of VHL is estimated to be one in 36,000 individuals, and the penetrance is near 100% by age 65.1 Twenty percent of patients will have a family history of VHL.1 RCHs are present in 70% of VHL patients and are often the first clinical manifestation of the disease.1 The lesions can be seen anywhere in the posterior fundus. RCHs can arise in the superficial retina and protrude inward toward the vitreous (endophytic), or they can originate in the outer retina and grow outward (exophytic). These lesions can also originate in and around the optic nerve. The exophytic and pupillary tumors tend to be more sessile, whereas the endophytic tumors tend to grow and leak more exudate.
VHL disease is caused by a mutation in the VHL gene, which is mapped to 3p25.1,2 This gene was first identified in 1988 and later cloned in 1993.1,2 It is thought to act as a tumor suppressor, much like the retinoblastoma gene. Because of the mutation within this tumor-suppressor gene, tumors tend to be bilateral, occur at a younger age and can affect multiple organs.1,2 Renal cell carcinoma is the most common cause of death.
The treatment of an RCH can be difficult. The goal is to diagnose and treat the tumors before patients develop vision loss or massive exudative retinopathy. Tumors that are less than one disc diameter in size can be treated successfully with laser photocoagulation.3
Photocoagulation of larger tumors is not recommended because it poses a significant risk for both hemorrhaging and exudative retinal detachment.
Cryotherapy, PDT and transpupillary thermotherapy (TTT) have all been employed for larger tumors and have demonstrated varying degrees of success.3 Some investigators have advocated treating the afferent feeder vessels in an attempt to cut off the blood supply to the tumor. When the blood supply to the tumor is shut off, it may shrink in size. Then, other local therapies, such as laser or cryotherapy, may be more successful.
More recently, radiotherapy has been employedeither plaque radiotherapy for unilateral lesions or EBRT for patients with multiple tumors, bilateral involvement or primary optic nerve involvement as well as for patients who have experienced little or no success with other therapies. Vascular tumors, such as an RCH, are radiosensitive, which makes EBRT an appealing treatment option.3
Our patient had an MRI to rule out any systemic and central nervous system involvement. Fortunately, the results were negative. She underwent EBRT O.D. in addition to a complicated repair of her retinal detachment, which included pars plana vitrectomy, membrance peel, a scleral buckling procedure and endolaser. Unfortunately, despite multiple procedures for persistent tractional retinal detachment, she never regained vision O.D.
In her left eye, however, EBRT did reduce the tumor, which was followed by successful TTT. Following the procedures, her final visual acuity was 20/20 O.S.
1. Hinz BJ, Schacht AP. Capillary hemangioma of the retina and von Hippel-Lindau disease. In: Ryan SJ (ed)., Retina: Basic Science and Inherited Retinal Disease, 4th edition.
2. Kreusel KM, Bechrakis NE, Krause L, et al. Retinal angiomatosis in von Hippel-Lindau disease: a longitudinal ophthalmologic study. Ophthalmology 2006 Aug;113(8): 1418-24.
3. Raja D, Benz MS, Murray TG, et al. Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes. Ophthalmology 2004 Jan;111(1):150-3.
Retina Quiz Answers: 1) a; 2) c; 3) c; 4)d; 5) d.