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.
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
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 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.
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
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: firstname.lastname@example.org).
Wachtlin J, Heimann H, Jandeck C, Kreusel KM, Bechrakis NE, Kellner U, Foerster MH. Bilateral Vasoproliferative Retinal Tumors With Identical Localization in a Pair of Monozygotic Twins. Arch Ophthalmol. 2002;120(6):860-862. doi: