Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease

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.