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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 827-829

Unilateral cavernous hemangioma in gyrate atrophy: A rare association

Department of Vitreo- Retina Services, Little Flower Hospital and Research Center, Angamaly, Kerala, India

Date of Submission10-Sep-2020
Date of Acceptance22-Mar-2021
Date of Web Publication09-Oct-2021

Correspondence Address:
Dr. Remya M Paulose
Little Flower Hospital and Research Center, Angamaly - 683 572, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_2861_20

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Keywords: Cavernous hemangioma, chorioretinal dystrophy, fundus fluorescein angiography, gyrate atrophy, optical coherence tomography, ornithine aminotransferase

How to cite this article:
Paulose RM, Joseph A, Cherian T. Unilateral cavernous hemangioma in gyrate atrophy: A rare association. Indian J Ophthalmol Case Rep 2021;1:827-9

How to cite this URL:
Paulose RM, Joseph A, Cherian T. Unilateral cavernous hemangioma in gyrate atrophy: A rare association. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Oct 28];1:827-9. Available from: https://www.ijoreports.in/text.asp?2021/1/4/827/327655

Numerous types of retinal vascular tumors have been recognized, and each has distinct clinical features, imaging findings, and management strategies. Accordingly, two types of retinal hemangiomas have been described based on clinical and histological characteristics: cavernous hemangioma[1],[2] and capillary hemangioma.[3] First description of retinal cavernous hemangioma was made by Niccol and Moore in 1934.[4] Cavernous hemangioma of retina (CHR) is a rare congenital retinal hamartoma. It is commonly seen in adolescents and the eyes involved with this condition are mostly monocular, accompanied by hemangiomas in the skin and central nervous system.[5]

Gyrate atrophy on the other hand is an autosomal recessive chorioretinal dystrophy caused by mutations in the gene for ornithine aminotransferase. It can occur in isolation or in association with other ocular and systemic abnormalities. The association of unilateral cavernous hemangioma in bilateral gyrate atrophy of retina has not been reported in literature.

A 54-year-old female with defective vision and night blindness since childhood was referred to retina clinic for the evaluation of pigmentary changes in both fundi. Her best-corrected visual acuity was 20/80, N8 in right eye and 20/40, N6 in left eye. She had no significant medical history of any systemic and ocular disease. There was no evidence of any cutaneous lesions. Pupils were round, equal, and reactive to light with no afferent pupillary defect. Biomicroscopy of the anterior segment was unremarkable. Fundus examination revealed well-defined scalloped circular areas with hyperpigmented margins in the peripheral and mid-peripheral retina, encroaching on to the posterior pole. In addition, right eye had small cluster of dilated vessels inferior to the macula with preretinal hemorrhages along the inferotemporal arcade as shown in [Figure 1]a.
Figure 1: Fundus photo of right eye showing cluster of aneurysmal lesions in the posterior pole along the inferotemporal arcade in (1a). Also note the scalloped pigmentary lesions extending from midperiphery in both eyes (a, b). Macular grid OCT passing through the aneurysm showing lobulated inner retinal lesion with optically clear space inferiorly in (c)

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Spectral domain optical coherence tomography (SD- OCT) demonstrated irregularity of the retinal surface, with oval cavernous spaces with hyperreflective lining beneath the internal limiting membrane corresponding to the vascular dilatations in the right eye. Choroidal thinning was noticed at the macula in both eyes which could be attributed to chorioretinal dystrophy. Fluorescein angiography in right eye showed early hypofluorescence in the area of vascular dilatations and late fluorescein appearance in the upper part with no leakage of dye [Figure 2]a. Lack of choroidal fluorescence was noted in the scalloped areas of chorioretinal atrophy. Full field electroretinogram showed diminished rod and cone response in both eyes. Magnetic resonance imaging of brain was with in normal limits.
Figure 2: Fluorescein angiography showing hypofluorescent aneurysms in the recirculation phase with typical fluorescein blood levels. (Fluorescein cap sign: red arrow in (a)). Hypofluorescence corresponding to the areas of chorioretinal atrophy seen in both eyes extending from midperiphery to periphery (b and c)

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A diagnosis of bilateral gyrate atrophy with right eye retinal cavernous hemangioma was made. She was given refractive correction and has been advised regular follow-up.

  Discussion Top

Cavernous hemangioma is composed of clumps of dark intraretinal aneurysms and with a “cluster-of-grapes” appearance. Although classically described as isolated hemangiomas in retina, rare association with cutaneous or nervous system involvement has been described. Thus, it could be a part of an oculocutaneous syndrome, which tends to occur in a familial form with autosomal dominant inheritance.[2],[3],[4] Once CHR is confirmed, it is important to exclude cerebral involvement by magnetic resonance imaging or computed tomography scan. If left untreated, cerebral vascular abnormalities can lead to significant morbidity. It is also important to examine at-risk family members if multiple organs are involved.[5],[6]

Although clinical picture of CHR is sufficiently characteristic, in some cases may be confused with Coats disease, Leber miliary aneurysms, or von Hippel–Lindau disease. The aneurysms in Coats disease and Leber military aneurysm are single, placed along retinal vessels, and stand out at the boundary of ischemic areas in fluorescein angiography, whereas in cavernous hemangioma form clusters which are relatively isolated from the vascular tree, and are not associated with retinal ischemia. FFA findings of CHR are characterized by normal perfusion of the retinal circulation but hypofluorescence within the main tumor mass in the early phase and delayed and incomplete perfusion of the lesion in the mid and late phase. The superior part of an aneurysm can accumulate an intensive fluorescent and can remain brightly fluorescent as shown in [Figure 2]. This is due to plasma–erythrocytic separation reflecting a stagnant blood flow in the lesion and is known as fluorescein-cap sign. CHR can be easily distinguished from von Hippel–Lindau disease due to the characteristic absence of feeder vessels and normal retinal vasculature.

To our understanding, no other case of cavernous hemangioma of retina in gyrate atrophy is reported in literature (PubMed, ScienceDirect, and Google Scholar). In our case, there was bilateral gyrate atrophy with unilateral cavernous hemangioma. As both the entities are very rare, any association between the two is less likely.

This case highlights the unique association of cavernous hemangioma in a case of gyrate atrophy. Multimodal imaging plays a key role in understanding the nature of retinal vascular lesions which may otherwise remain unrecognized.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Goldberg RE, Pheasant TR, Shields JA. Cavernous hemangioma of the retina. A four-generation pedigree with neurocutaneous manifestations and an example of bilateral retinal involvement. Arch Ophthalmol 1979;97:2321-4.  Back to cited text no. 1
Gass JD. Developmental Tumors of the Retinal Pigment Epithelium (RPE) and Retina. Stereoscopic Atlas of Macular Diseases, diagnosis and treatment. J. D. Gass. St. Louis, Mosby. II: 1997:1061.  Back to cited text no. 2
Singh AD, Rundle PA, Rennie I. Retinal vascular tumors. Ophthalmol Clin North Am 2005;18:167-76, x.  Back to cited text no. 3
Niccol W, Moore RF. A case of angiomatosis retinae. Br J Ophthalmol 1934;18:454-7.  Back to cited text no. 4
Shields JA, Eagle RC Jr, Ewing MQ, Lally SE, Shields CL. Retinal cavernous hemangioma: Fifty-two years of clinical follow-up with clinicopathologic correlation. Retina 2014;34:1253–7.  Back to cited text no. 5
Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D. A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma. Ophthalmic Genet 2006;27:157-9.  Back to cited text no. 6


  [Figure 1], [Figure 2]


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