Retinal cavernous hemangioma (RCH) is a rare vascular retinal hamartoma that has been reported to occur either sporadically or as a dominantly inherited trait. Gass originally described RCH as a distinct entity in 1971.1 RCH is a localized and sessile vascular tumor that consists of numerous, closely clustered, thin-walled globules sprouting from a retinal vein similar to a cluster of grape-like vascular formations or saccules. It is sometimes possible to observe plasma or erythrocyte sedimentation within the saccules.2,3
Cavernous hemangiomas are believed to be present from birth. A solitary vascular lesion is present in the majority of patients, usually approximately one to two disc diameters in size and located outside the central macula. RCH can also develop at the posterior pole or the optic disc. When associated with vitreous hemorrhage, which can be recurrent, RCH can induce acute visual loss.3
Fundus fluorescein angiography (FFA) has been considered the gold standard imaging technique to diagnose RCH. FFA demonstrates not only the characteristic anatomical pattern of RCH, but also any associated dye accumulation and leakage.1–3 Swept-source optical coherence tomography (SS-OCT) is a new imaging technology that uses a tunable laser as a light source operated at a 100,000-Hz A-scan repetition rate and with a wavelength of 1,050 nm. Reduced light scattering with deep tissue penetration and uniform image sensitivity, from the cortical vitreous to the internal surface of the sclera, are achieved.4 We report our findings with this new non-invasive imaging method for the diagnosis and management of RCH.
A healthy 6-year-old girl with a 6-month history of blunt ocular trauma from a snowball and reduced vision in the left eye was referred for the management of a non-clearing posterior pole intraretinal hemorrhage. Best-corrected visual acuity in the affected eye was 0.4 logMAR (Snellen 6/15). Fundus examination findings were normal except for the presence of an intraretinal and subretinal hemorrhage along the inferotemporal vascular arcade and approximately two disc areas in size without any associated exudation (Figure 1).
Retinal cavernous hemangioma with associated intraretinal and subretinal hemorrhage along the inferotemporal vascular arcade. Total lesion size: approximately 2 disc areas (white circle).
Fourier-domain OCT (FD-OCT) (Topcon 3D OCT-2000; Topcon Medical Systems, Oakland, NJ), SS-OCT (Topcon DRI OCT-1 Atlantis; Topcon Corp., Tokyo, Japan), and wide-field FFA (WF-FFA) (Retcam 3; Clarity Medical Systems Inc., Pleasanton CA) imaging were performed. FD-OCT showed retinal thickening with cystic internal appearance in the affected area. Optical shadowing was present, preventing visualization of the entirety of the lesion to enable a definitive diagnosis (Figure 2A). However, SS-OCT showed large globoid structures with a “cluster of grapes” appearance within the hemorrhage and thin preretinal tissue of relative high reflectivity compatible with the internal limiting membrane bridging the saccules (Figure 2B). WF-FFA imaging performed under general anesthesia showed typical late filling of the “saccular” abnormal blood vessels with fluorescence capping, characteristic of RCH. Neither leakage nor signs of neovascularization were present (Figure 3). Magnetic resonance imaging scans and examination of the skin did not reveal any additional vascular abnormalities.
Fourier-domain optical coherence tomography showed an intraretinal lesion with cystic-like internal appearance. (A) Significant optical shadowing was present, preventing the visualization of any subretinal component to the lesion. (B) The 12-mm long 5-raster line cross pattern (5 lines vertical and 5 lines horizontal) default setting was used in a vitreous focal mode and centered on the fovea. The spacing between the top and the bottom line of the 5-line cross pattern was set at 1.5 mm. The scans showed thickened retina with optically clear intraretinal saccular structures and saccular structures with content of medium reflectivity observed as hemorrhage on fundus biomicroscopy, color photography, and fluorescein angiography (white arrows) and were compatible with the saccular aneurysms. Overlying preretinal tissue can be observed forming bridges between the saccules (blue arrows). Swept-source optical coherence tomography scans also showed the hyaloidal membrane attached to the posterior pole (red arrows), and the bursa premacularis (green arrows).
Wide-field fundus fluorescein angiography late frames showing the typical fluid level or “fluorescence capping” secondary to the sedimentation of erythrocytes within a single saccule (white arrow). This scarcity of “capping” could be due to the angiogram having been performed with the patient lying in the supine position and under general anesthesia.
No treatment was deemed necessary at the time and, after 8 months of follow-up, the visual acuity improved to 0.0 logMAR (Snellen 6/6), the retinal appearance on ophthalmoscopy remained unchanged, and no intraretinal or subretinal fibrosis developed after resolution of the retinal hemorrhages. The dimensions of the vascular structures and the thickness of the vascular walls of each saccule remained unchanged on the SS-OCT scans.
RCH is a rare, benign, often unilateral vascular tumor that is usually observed in young individuals. Girls are more commonly affected. Although most patients with RCH are asymptomatic, neurological symptoms or decreased vision can occur, especially if the macula is involved.3 An association between RCH and cavernous hemangiomas of the skin and central nervous system (temporal lobe of the brain) has been described; however, this association is rare and only 12% of affected patients develop intracranial hemorrhage.5 RCH has been considered a neuro-oculocutaneous syndrome due to the association between lesions in the skin and central nervous system.5 RCH extending circumferentially throughout 360° in the mid-peripheral retina has been described in patients with an autosomal dominant inheritance pattern.6 It is recommended to examine all first-degree relatives of those affected.
Trauma and blood dyscrasia are among the differential diagnoses to be considered when a child presents with visual loss and intraretinal and/or subretinal hemorrhage.2,3,7 Our patient presented 6 months following a history of blunt ocular trauma from being struck by a snowball. However, the retinal hemorrhage had not cleared during this time, preventing an accurate diagnosis by ophthalmoscopy. SS-OCT confirmed the presence of intraretinal vascular formations, leading to further imaging studies and confirmation of the diagnosis of RCH. The SS-OCT may be especially helpful in those cases in which hemorrhage prevents diagnosis with ophthalmoscopy or angiography.
Most patients with localized RCH retain good vision. Visual prognosis in patients with macular involvement, extensive RCH, or associated recurrent vitreous hemorrhages is uncertain.2,3 Spontaneous vitreous hemorrhages in RCH have been described in the absence of trauma or vitreous detachment, with contraction of the preretinal membrane being suggested as the cause.8
Treatment of RCH with cryotherapy and/or laser photocoagulation has been proposed. However, such treatment is generally not recommended today because it may worsen the functional results due to secondary fibrosis and hemorrhage.1,3 Vitrectomy may be indicated for diagnostic reasons and for prevention of amblyopia in case of non-clearing vitreous hemorrhage.3
The early frames of WF-FFA showed vascular channels within the RCH that remained hypofluorescent. As the angiogram progressed, these vascular channels slowly filled with dye. The late frames showed the typical fluid level of “fluorescence capping” within only one saccule (white arrow, Figure 3) and this scarcity could be because the angiogram was performed with the patient lying supine; the phenomenon is secondary to the sedimentation of erythrocytes within the venous aneurysm.3 No extravascular leakage of dye is observed in RCH; this is probably due to the presence of a normal blood–retinal barrier in the walls of the hemangioma.8
Previous reports of both time-domain and FD-OCT do not show images from which a diagnosis of RCH can be established without the help of fluorescein angiography.8 To our knowledge, we are the first to report our diagnostic findings with SS-OCT in a pediatric patient with RCH. The high quality and resolution of the images provided by SS-OCT allow for the diagnosis of this condition even in the presence of intraretinal and subretinal hemorrhage and without the need of fluorescein angiography. This is particularly important in pediatric patients because it may diminish the risk of potential fluorescein angiography-related complications. In addition, SS-OCT enabled an anatomical characterization of RCH and the monitoring of the dimensions of the internal vascular structures and thickness of the vascular walls of each saccule over time (Figure 2B).
SS-OCT also showed the overlying preretinal tissue, imaged as a continuous hyperreflective signal forming points of attachment between the saccules and compatible with the internal limiting membrane. Epiretinal membrane formation with subsequent contraction could be the cause of recurrent vitreous hemorrhages observed in some of these patients and may also be the reason for the worsening of functional results due to secondary fibrosis and hemorrhage following cryotherapy or laser treatment.7
It can be difficult to differentiate between internal limiting membrane and epiretinal membrane on FD-OCT images. SS-OCT seems to provide higher resolution at the vitreoretinal interface. RCH frequently has an overlying glial membrane. A previous histopathological study reported the presence of the preretinal membrane containing processes of fibrous astrocytes with cytoplasmic filaments overlying RCH.7,8 The preretinal membrane has been found to be attached to the internal limiting membrane and directly connected to the vascular saccules through breaks in the internal limiting membrane. Immunohistochemistry analysis showed the presence of glial fibrillary acid protein in the preretinal membrane, supporting their glial origin.7,8
This new imaging modality may facilitate the diagnosis of RCH, especially in those cases with associated intraretinal and/or subretinal hemorrhage. SS-OCT may also allow for the first time objective and more accurate monitoring of the natural evolution or response to treatment. This new imaging technology may become an alternative and non-invasive imaging technique for this condition, thus avoiding the risks of fluorescein angiography in children. The low prevalence of RCH may prevent future larger studies.
- Gass JD. Cavernous hemangioma of the retina: a neuro-oculocutaneous syndrome. Am J Ophthalmol. 1971;71:799–814. doi:10.1016/0002-9394(71)90245-5 [CrossRef]
- Patikulsila D, Visaetsilpanonta S, Sinclair SH, Shields JA. Cavernous hemangioma of the optic disk. Retina. 2007;27:391–392. doi:10.1097/01.iae.0000239415.16669.47 [CrossRef]
- Naftchi S, la Cour M. A case of central visual loss in a child due to macular cavernous haemangioma of the retina. Acta Ophthalmol Scand. 2002;80:550–552. doi:10.1034/j.1600-0420.2002.800518.x [CrossRef]
- Stanga PE, Sala-Puigdollers A, Caputo S, et al. In vivo imaging of cortical vitreous using 1050-nm swept-source deep range imaging optical coherence tomography. Am J Ophthalmol. 2014;157:397–404. doi:10.1016/j.ajo.2013.10.008 [CrossRef]
- Schwartz AC, Weaver RG Jr, Bloomfield R, Tyler ME. Cavernous hemangioma of the retina, cutaneous angiomas, and intracranial vascular lesion by computed tomography and nuclear magnetic resonance imaging. Am J Ophthalmol. 1984;98:483–487. doi:10.1016/0002-9394(84)90136-3 [CrossRef]
- Hewick S, Lois N, Olson JA. Circumferential peripheral retinal cavernous hemangioma. Arch Ophthalmol. 2004;122:1557–1560. doi:10.1001/archopht.122.10.1557 [CrossRef]
- Pringle E, Chen S, Rubinstein A, Patel CK, Downes S. Optical coherence tomography in retinal cavernous haemangioma may explain the mechanism of vitreous haemorrhage. Eye (Lond). 2009;23:1242–1243. doi:10.1038/eye.2008.156 [CrossRef]
- Messmer E, Font RL, Laqua H, Höpping W, Naumann GO. Cavernous hemangioma of the retina: immunohistochemical and ultra-structural observations. Arch Ophthalmol. 1984;102:413–418. doi:10.1001/archopht.1984.01040030331031 [CrossRef]