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Clinicopathologic Reports, Case Reports, and Small Case Series
June 2002

Bilateral Vasoproliferative Retinal Tumors With Identical Localization in a Pair of Monozygotic Twins

Arch Ophthalmol. 2002;120(6):860-862. doi:

Vasoproliferative retinal tumors are benign vascular tumors of unknown origin that are usually located in the periphery of the lower ocular fundus. They became a clinical entity in 1995 when Shields et al1 coined the term "vasoproliferative tumors of the ocular fundus." Before then, these lesions were called presumed acquired hemangiomas, angioma-like lesions, or peripheral retinal telangiectasis. Histological examinations of vasoproliferative retinal tumors have demonstrated glial and vascular proliferation.2,3 These tumors can develop idiopathically or can be secondary to other retinal disorders. Concomitant phenomena, such as exudative retinal detachment, lipid exudates, and macular edema or hemorrhages, can lead to the deterioration of vision.

Report of Cases

A pair of 58-year-old monozygotic female twins sought care because of visual deterioration. Both sisters had bilateral multiple peripheral vasoproliferative retinal tumors (Figure 1 and Figure 2) of nearly identical spread and localization in the inferior part of the ocular fundus. Fluorescein angiography demonstrated extensively vascularized tumors that were filling from the retinal vessels in the early phase and consecutive marked fluorescein leakage in the late phase.

Figure 1
 A fundus photograph shows vasoproliferative
retinal tumors in the right eye of patient 1. The tumors are located in the
inferior part of the fundus and show marked exudation.

A fundus photograph shows vasoproliferative retinal tumors in the right eye of patient 1. The tumors are located in the inferior part of the fundus and show marked exudation.

Figure 2
 A fundus photograph shows a vasoproliferative
retinal tumor with concomitant retinal detachment in the left eye of patient2.

A fundus photograph shows a vasoproliferative retinal tumor with concomitant retinal detachment in the left eye of patient2.

Because of the relatively low thickness of the tumors (1.5 mm and 2.0 mm), patient 1 was treated with bilateral cryotherapy. Her sister, who had thicker tumors (4.6 mm and 2.5 mm), underwent ruthenium 106 brachytherapy in both eyes. Both cryotherapy and ruthenium 106 brachytherapy led to regression of the vasoproliferative retinal tumors. subsequent examination of the twins' DNA band-sharing rates confirmed monozygosity.

Comment

To our knowledge, this is the first description of vasoproliferative retinal tumors in a pair of monozygotic twins. Although vasoproliferative retinal tumors usually develop unilaterally, our 2 patients showed the typical clinical picture.1,2 This consists of retinal tumors characterized by a pink to yellow appearance on funduscopy that are associated with intraretinal hemorrhage, intraretinal or subretinal exudate, and hyperpigmentation of the retinal pigment epithelium. Fluorescein angiography shows rapid filling of the tumors through a nondilated retinal-feeding arteriole and diffuse leakage in the venous and late phase of the angiogram. Our patients showed no abnormalities in the lipid metabolism and no underlying systemic diseases.

During the differential diagnosis, von Hippel–Lindau disease was excluded based on its not being present in the family history, the absence of additional clinical features of von Hippel-Lindau disease, and a negative molecular genetic test for a mutation of the VHLD gene.4 In addition, the age of onset in our patients was inappropriate for von Hippel–Lindau disease.

Although some similarities to familial exudative retinopathy may exist, the former includes a family history for this with autosomal dominant or X-linked inheritance, which was not the case in our patients. Moreover, familial exudative retinopathy is not associated with retinal tumors, and the age of onset is much younger.

Coats disease also develops at a much younger age, rarely occurs bilaterally, usually affects boys, and is characterized in advanced cases by massive exudation at the posterior pole. Similar tumorous lesions rarely occur in this disease, even in very advanced stages.

The pathogenesis of vasoproliferative retinal tumors has yet to be explained. A study by Shields et al1 in 103 patients showed that about three quarters of vasoproliferative retinal tumors are primary and about one quarter are secondary to other diseases. In our patients, no other eye disease was evident.

Irvine et al3 suggested renaming vascular retinal tumors as "reactionary retinal glioangiosis." This suggestion reflects the hypothesis that the vessel proliferation is caused by the release of vasoproliferative factors from the proliferating neuroglial tissue. However, the actual trigger and stimulus for this proliferation remain unclear. Moreover, we do not know whether the neuroglial proliferation is already present, nor do we know what triggers it in primary cases, such as the ones described here.

The tumors in our patients were unusually similar in localization and extension and had also developed bilaterally in a pair of monozygotic, and thus genetically similar, twins. The absence of underlying systemic diseases leads us to assume that these are primary cases. This suggests, however, that the pathogenesis could be genetically determined, to a certain degree, and not entirely dependent on reactive changes.

This study was presented in part at the 10th International Congress of Ocular Oncology, Amsterdam, the Netherlands, June 19, 2001.

We thank Martin Digweed, PD, for performing the DNA analysis for monozygosity and Hartmut P. H. Neuman, PhD, for screening for a mutation in the VHLD gene.

Corresponding author and reprints: Joachim Wachtlin, MD, Department of Ophthalmology, University Medical Center Benjamin Franklin, Free University of Berlin, Hindenburgdamm 30, 12200 Berlin, Germany (e-mail: wachtlin@ukbf.fu-berlin.de).

References
1.
Shields  CLShields  JABarrett  JDe Potter  P Vasoproliferative tumors of the ocular fundus: classification and clinical manifestations in 103 patients. Arch Ophthalmol. 1995;113615- 623Article
2.
Heimann  HBornfeld  NVij  O  et al.  Vasoproliferative tumours of the retina. Br J Ophthalmol. 2000;841162- 1169Article
3.
Irvine  FO'Donnell  NKemp  ELee  WR Retinal vasoproliferative tumors: surgical management and histological findings. Arch Ophthalmol. 2000;118563- 569Article
4.
Stolle  CGlenn  GZbar  B  et al.  Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat. 1998;12417- 423Article
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