S. Piermarocchi et al., Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease, GR ARCH CL, 238(7), 2000, pp. 615-620
Citations number
7
Categorie Soggetti
Optalmology
Journal title
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
Background: von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome
in which affected individuals are at risk of developing tumors in multiple
organs, including eyes, cerebellum, spinal cord, kidneys, inner ear, adren
al glands and pancreas. Methods: We performed a fundus examination and fluo
rescein and indocyanine green (ICG) angiography in both eyes of a young wom
an affected by VHL with bilateral pheochromocytoma, retinal angioma, retina
l microaneurysms and unusual alterations of the deep retinal layers. A mole
cular analysis of the VHL gene was carried out. Results: Ophthalmoscopy dis
closed in her right eye a small retinal hemangioma, some microaneurysms in
both eyes at the posterior pole and multiple, small, whitish, dome-shaped l
esions scattered in the retinal pigment epithelium (RPE) of the posterior r
etina. Fluorescein angiograms revealed in the early phase multiple hyperflu
orescent spots that showed progressive discoloration in the late phase of a
ngiography. Some of these spots were ophthalmoscopically undetectable. The
late phase of ICG angiography showed some small hyperfluorescent points loc
ated at the level of the RPE, and some of them corresponded to the hyperflu
orescent spots seen on fluorescein angiography. The molecular analysis reve
aled the presence of a "mis-sense" mutation of the VHL gene at nucleotide 6
83. Conclusions: Alterations in the RPE have never been observed in the VHL
syndrome. We describe an unusual case of VHL with a capillary hemangioma a
ssociated to diffuse alterations with the RPE of the posterior retina. The
possibility exists that these lesions form part of the eye modifications in
VHL.