Features
There are several vascular tumors (hemangiomas) that can occur in the retina including retinal hemangioblastoma, cavernous hemangioma, racemose hemangioma, and vasoproliferative tumor (VPT). Each has distinct funduscopic and imaging features, as well as systemic findings. Some of these conditions have underlying genetic mutation and are associated with the oculoneurocutaneous syndromes (phakomatoses). These conditions are listed on Online Mendelian Inheritance in Man (OMIM.com) and ocular genetic testing (www.genetests.org) is available to direct the clinician to relevant laboratories for provision of genetic testing.
96.1.1 Retinal Hemangioblastoma
This lesion is a benign vascular hamartoma that has clinical onset in the first two decades of life. This tumor has been termed “retinal capillary hemangioma” or “retinal angiomatosis,” but the current term is “retinal hemangioblastoma.” Bilateral or multiple retinal hemangioblastomas are associated with von Hippel-Lindau (VHL) syndrome and patients should be evaluated for this condition with brain, renal, and adrenal imaging, as well as genetic testing (▶ Table 96.1). There are three types of mutation in the VHL gene including type1 with deletion or nonsense mutation that manifests mainly hemangioblastomas only; type 2 with missense mutation that can manifest hemangioblastomas and pheochromocytomas (type 2A) or additional renal cell carcinoma (type 2B) or only pheochromocytoma (type 2C); and type 3 with risk for polycythemia.
If family history is | Feature |
Positive | Any one of the following:
|
Negative | Any one of the following:
|
Notes: Family history of retinal or brain hemangioma or visceral lesion Visceral lesions include renal cysts, renal carcinoma, pheochromocytoma, pancreatic cysts, islet cell tumors, epididymal cystadenoma, and endolymphatic sac tumor. | |
96.1.2 Retinal Cavernous Hemangioma
This tumor is a slow-flow venous vascular mass, occasionally associated with skin and central nervous system hemangiomas. It can occur with cerebral cavernous malformations as a sporadic or familial autosomal dominant disorder. There are three cerebral cavernous malformation (CCM) genes: CCM/KRIT1, CCM2/MGC4607, and CCM3/PDCD10.
96.1.3 Retinal Racemose Hemangioma
This lesion is not a true neoplasm but rather a simple or complex arteriovenous communication. This can be a solitary lesion or it can be part of Wyburn-Mason syndrome (also termed “Bonnet-Dechaume-Blanc syndrome”), anatomically referencing retinoencephalofacial angiomatosis. This nonhereditary arteriovenous malformation can affect the retina, visual pathways, midbrain, and facial bones including the mandible and maxilla. Some evidence implies that genetic or developmental factors early in gestation could lead to dysgenesis of the embryologic vascular plexus, and the time of insult determines the location and extent of manifestations.
96.1.4 Vasoproliferative Tumor
A VPT of the ocular fundus is a vascular mass that can occur as a primary or secondary condition. Secondary tumors result from intermediate uveitis, retinitis pigmentosa, Coats disease, or chronic retinal detachment (▶ Table 96.2). There are no genetic abnormalities associated with this condition, but those with secondary tumors should undergo evaluation for underlying retinal conditions. This lesion is not associated with VHL but can be rarely associated with neurofibromatosis type 1.
Tumor | Age (most common) (y) at diagnosis | Frequency of tumor |
Head and neck | ||
Retinal hemangioblastoma | 12–25 | 25–60% |
Cerebellar hemangioblastoma | 18–25 | 44–72% |
Brainstem hemangioblastoma | 24–35 | 10–25% |
Spinal cord hemangioblastoma | 24–35 | 13–50% |
Endolymphatic sac tumor | 16–28 | 11–16% |
Trunk | ||
Renal cell carcinoma/cyst | 25–50 | 25–60% |
Pheochromocytoma | 12–25 | 10–20% |
Pancreatic tumor/cyst | 24–35 | 35–70% |
Epididymal cystadenoma | 14–40 | 25–60% males |
Broad ligament cystadenoma | 16–46 | 10% females |
Source: Data compiled from a survey of papers from 1976 to 2004, including data from the VHL Family Alliance (VHLFA) and adapted from the VHLFA Handbook (http://www.vhl.org/; http://www.chop.edu/service/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/von-hippel-lindau-syndrome.html). | ||
96.1.5 Common Symptoms
Retinal Hemangioblastoma
Mostly asymptomatic; commonly diagnosed incidentally; regardless of tumor location, accumulation of subretinal fluid and exudation can lead to profound visual loss.
Retinal Cavernous Hemangioma
May be asymptomatic, or may present with decreased visual acuity depending on the location of the tumor, presence of macular fibrosis, or vitreous hemorrhage.
Racemose Hemangioma
Mostly asymptomatic; visual disturbances may occur depending on the size and location of retinal arterial-venous malformations.
Vasoproliferative Tumor
Possible blurriness, floaters, photopsia, or vision loss.
96.1.6 Exam Findings
Retinal Hemangioblastoma
Appears clinically as a nodular, red-orange mass, located randomly in the fundus and notably with prominent dilated and tortuous retinal vessels feeding and draining the tumor (▶ Fig. 96.1). In some cases, the tumor is not visible and only the feeding vessels are seen (▶ Fig. 96.2). When located at the optic disc, the mass can masquerade as optic disc inflammation or papillitis, and feeder vessels are typically not seen. This tumor can produce subretinal fluid, subretinal and intraretinal exudation, and vitreoretinal fibrosis with epiretinal membrane and traction retinal detachment (▶ Fig. 96.3). The exudation often accumulates in the macular region as a macular star.
Fig. 96.1 (a) Small retinal hemangioblastoma in a child with known von Hippel-Lindau disease showing dilated vessels leading to an orange-colored intraretinal mass that shows (b) hyperfluorescence on angiography, (c) intact macula on optical coherence tomography (OCT), and (d) with solid intraretinal tumor with surrounding retinal edema on OCT at the tumor site.
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