History of present illness

A 37-year-old female patient presented with no significant medical history. The patient was referred by an outside ophthalmologist for a red retinal lesion in her right eye. One month before presentation, she noted decreased vision in her right eye described as a white/gray shadow in her vision. This vision change has remained stable since onset, and she has no other associated symptoms including flashes, new floaters, pain, redness, or photophobia. She has no ocular, medical, or surgical history. She takes no medications, including eye drops, and she has no known drug allergies. The patient smokes a pack of cigarettes per day, and she does not drink alcohol or use illicit drugs. She has no family history of medical problems, including ocular disease, and a review of systems is only positive for anxiety.

Questions to ask

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  Does the patient have any skin cavernous hemangiomas currently? Did she have any as a child?

  
  
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  Is there any family history of renal cell carcinoma, cerebellar hemangioblastoma, or pheochromocytoma ?

  
  

  
  

  
  

  

  
  

  
  

  (A) Ultrawide-field pseudocolor photograph of the right eye with exudates in the inferior macula and an elevated red lesion 3 mm in diameter in the inferior midperiphery with large, dilated feeder vessels coursing off the inferior arcade. (B) Fluorescein angiography of the right eye with a hyperfluorescent lesion with minimal leakage and large feeder vessels. (C) Optical coherence tomography demonstrating cystoid macular edema in the inferior macula with associated hard exudates. The lesion is hyperreflective emanating from the inner retina. Inlay infrared reflectance map. (D)B scan ultrasonography measuring the thickness of the lesion as 2.52 mm, with medium echogenicity.

  
  

  
  

  
  

  

  
  

  
  

  Algorithm for vascular lesion diagnosis.

  
  

Assessment

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  This is a 37-year-old female patient with 1 month of decreased vision in the right eye found to have inferior macular edema and an elevated red retinal lesion in her inferior midperiphery with dilated feeder vessels ( Algorithm 74.1 ​).

Differential diagnosis

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  Retinal capillary hemangioma

  
  
  
  
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    Dilated feeder vessels and associated exudation can be related to von Hippel–Lindau syndrome

  
  
  
  
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  Retinal vasoproliferative tumor

  
  
  
  
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    Inferotemporal peripheral location, feeder vessels slightly dilated/tortuous (but less so than capillary hemangioma)

  
  
  
  
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  Retinal cavernous hemangioma

  
  
  
  
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    “Cluster of grapes” appearance, usually asymptomatic

  
  
  
  
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  Retinal arteriovenous malformation

  
  
  
  
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    Large, dilated tortuous vessels from arteriovenous communications with no intervening capillaries, usually no exudation, subretinal fluid, or masses

  
  
  
  
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  Coats disease (retinal telangiectasis)

  
  
  
  
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    Aneurysmal dilation of blood vessels with prominent subretinal exudate, no masses

  
  

Working diagnosis

A working diagnosis of retinal capillary hemangioma was made based on history and examination. Further retinal imaging, magnetic resonance imaging (MRI) of the brain, computed tomography (CT) of the abdomen/pelvis, and genetic testing for von Hippel–Lindau syndrome were obtained.

Retinal capillary hemangiomas are benign vascular tumors that arise from the retina or optic disc. The average age of detection is 15 to 35 years old, and they can be isolated or associated with von Hippel–Lindau syndrome.​ ^, Patients with multiple lesions or bilateral involvement are more likely to have von Hippel–Lindau syndrome, although all patients should undergo systemic evaluation.

Von Hippel–Lindau syndrome is an autosomal dominant disorder caused by a mutation in a tumor suppressor gene on chromosome. Other associated systemic manifestations include cavernous hemangiomas of the skin; renal cell carcinoma; pheochromocytoma; cysts of the kidney, pancreas, and liver; and hemangioblastomas in the cerebellum, medulla, pons, and spinal cord.

Multimodal testing and results

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  Optical coherence tomography demonstrated cystoid macular edema in the inferior macula with associated hard exudates. The lesion was hyperreflective emanating from the inner retina.

  
  
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  Fluorescein angiography showed a hyperfluorescent lesion with minimal leakage and large feeder vessels.

  
  
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  Ultrasonography measured the thickness of the lesion as 2.52 mm with medium echogenicity.

  
  
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  MRI brain and CT abdomen/pelvis were unremarkable.

  
  
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  Genetic testing was negative for genes associated with von Hippel–Lindau syndrome.

Management

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  Three months after the patient’s initial presentation, she returned with a decrease in her right eye vision to 20/40. The decision was made to proceed with planned focal laser directly to the lesion with the following parameters: power 650 mW, duration 0.6 seconds, size 400 μm, and 154 applications to an end point of whitening the entire surface of the lesion while avoiding the feeder vessels.

  
  
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  Four months after the initial presentation, the patient’s vision remained 20/40 with scant vitreous hemorrhage overlying the lesion. The decision was made to repeat the focal laser with similar parameters as above.

  
  
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  The patient underwent a total of five focal laser therapy sessions over 5 months.

  
  
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  Other treatment options for retina capillary hemangiomas include cryotherapy, plaque radiotherapy, photodynamic therapy, and, rarely, pars plana vitrectomy with surgical excision.

Follow-up care

Nine months after the initial presentation, the patient’s visual acuity was 20/25 +1 in the right eye. On examination, the macular edema had resolved, the lesion had regressed in size, and there was minimal overlying vitreous hemorrhage. Ultrasonography measured the thickness of the lesion to be 1.36 mm compared with 2.52 mm on initial presentation. The decision was made to observe with the plan to follow up in 2 months.

Algorithm 74.1 : Algorithm for vascular lesion diagnosis

Hemangioma has a vascular tumor while AVM does not (the absence of vascular tumor and no exudation is a double negative).

Key points

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  Retinal capillary hemangiomas are vascular lesions with dilated feeder vessels and associated exudation, and they can be associated with von Hippel–Lindau syndrome.

  
  
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  A systemic workup should accompany the diagnosis of retinal capillary hemangiomas including MRI of the brain, CT of the abdomen/pelvis, and genetic testing for von Hippel–Lindau syndrome.

  
  
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  Primary treatment of retinal capillary hemangiomas includes multiple sessions of focal laser or cryotherapy with the end points of lesion regression and resolution of exudation.