When a cavernous hemangioma or astrocytic hamartoma is identified, it raises concerns about potential associated intracranial lesions, such as vascular malformations in the former and tubers in the latter. Failure to detect these intracranial anomalies may miss lesions that predict neurological consequences including seizures, intracranial hemorrhage, or serious loss of neurologic function if undetected. In this report, we present the case of a patient with an asymptomatic cystic lesion located in the left inferotemporal region, characterized by distinctive vascular bulbs at its tips, along with discussion of diagnostic strategies and clinical management.
Case Presentation
A 42-year-old Caucasian male was referred for a comprehensive ophthalmological assessment after the identification of a cystic lesion during a routine eye examination. The patient reported no complaints of vision loss, floaters, or other related symptoms. There was no notable medical history and the patient had no known family history of eye diseases or systemic conditions such
as tuberous sclerosis.
Upon examination, the patient exhibited 20/20 visual acuity in both eyes and intraocular pressure was within normal limits. The slit-lamp examination revealed no abnormalities in either eye, while the dilated fundus exam disclosed a cystic lesion in the inferotemporal region of the left eye, characterized by distinct vascular bulbs at its tips. No other anomalies were observed in either eye.
The team utilized various imaging techniques to further study these findings. Optical coherence tomography (OCT) imaging confirmed the cystic character of the lesion, revealing structurally normal overlying retinal tissue (Figure 1). Fluorescein angiography (FA) displayed hyperfluorescence with late staining, yet no signs of leakage were detected (Figure 2). After these 2 diagnostic tests, magnetic resonance imaging (MRI) of the brain was recommended to exclude any potential intracranial involvement.
Differential Diagnoses
The cystic nature of the lesion, along with the presence of vascular bulbs, suggests a potential diagnosis of cavernous hemangioma. Cavernous hemangiomas are benign, unilateral lesions originating from malformed blood vessels and are the most common benign orbital tumors. These lesions, resembling “bunches of grapes,” can either be asymptomatic or symptomatic, exhibiting slow growth.1 While they often occur sporadically and unilaterally, they may also be associated with intracranial vascular malformations. Various imaging techniques such as an M
RI of the brain, OCT scans, fundus photography, and FA are used to obtain an accurate diagnosis. In most cases, treatment is not necessary; however, surgical interventions such as vitrectomy and membrane peeling are typically recommended for local ocular disease. Other neurologic surgical interventions may be needed, if a central nervous system lesion is detected.
Considering the patient’s age and observed characteristics of the lesion, the possibility of retinal astrocytic hamartoma, benign tumors frequently associated with tuberous sclerosis and displaying similar clinical features, was also considered. Comprised of glial cells, hamartomas may present in isolation or as a secondary manifestation of other conditions. Commonly known as “mulberry lesions” due to their multinodular calcified appearance, hamartomas appear as cream-white, encircled elevated lesions, either singly or in clusters.2 Alternatively, they may appear as flat, yellow semi-translucent formations. Accurate diagnosis of astrocytic hamartomas involves various imaging techniques, including an MRI of the brain, OCT scans, fundus photography, and FA. While many cases may not necessitate treatment, periodic monitoring is essential due to an elevated risk of complications such as retinal detachments, vitreous hemorrhaging, and neovascular glaucoma.3 To treat smaller lesions, photocoagulation may be used; meanwhile larger asymptomatic tumors may benefit from the use of photodynamic therapy.
Retinal vasoproliferative tumors (VPT) are uncommon, unilateral, and benign vascular masses presenting as yellow-reddish lesions in the peripheral retina. They are often associated with vision impairment resulting from macular edema or epiretinal membranes.4 Treatment options include periodic monitoring for asymptomatic, non-leaking tumors. However, when symptoms such as vision loss and subretinal fluid/exudation occur, laser photocoagulation, cryotherapy, photodynamic therapy, or plaque radiotherapy may be considered.
These tumors can be distinguished from cavernous hemangiomas by the absence of intracranial connections. Additionally, they differ from retinal astrocytic hamartoma due to the lack of characteristic calcified retinal nodules associated with tuberous sclerosis.
Management and Follow-up Results
Given the diagnostic uncertainty, the patient was referred for an MRI of the brain and neurological consultation for further assessment of potential intracranial lesions. Additionally, genetic testing for markers of tuberous sclerosis was advised. The MRI results later indicated that everything was within normal limits, showing no evidence of tuberous sclerosis or intracranial arteriovenous malformation.
Based on these results, the collaborating physicians diagnosed the patient with a cavernous hemangioma exhibiting features of a vasoproliferative tumor. They recommended regular follow-ups with the general ophthalmologist every 6 months, or sooner if any changes were noted. This approach aims to monitor the condition effectively and ensure prompt intervention if needed.
Conclusion
This case underscores the importance of a thorough evaluation for patients presenting with retinal lesions. A multidisciplinary approach, involving ophthalmology, neurology, and radiology, is essential for accurate diagnosis and management, particularly in cases where intracranial involvement is suspected. This collaborative approach ensures a comprehensive understanding of the intricacies between ocular and neurological factors, enabling a more nuanced and effective patient care strategy. It highlights how ongoing communication and shared expertise among specialists are necessary to navigate the complexity of retinal pathologies, ultimately contributing to improved outcomes. NRP
References
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2. Martin K, Rossi V, Ferrucci S, Pian D. Retinal astrocytic hamartoma. Optometry. 2010;81(5):221-233. doi:10.1016/j.optm.2009.12.009
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4. Huang YM, Chen SJ. Clinical characters and treatments of retinal vasoproliferative tumors. Taiwan J Ophthalmol. 2016;6(2):85-88. doi:10.1016/j.tjo.2016.04.003
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