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

Stefano Piermarocchi, Giuseppe Lo Giudice, Elisabetta Pilotto, Enrico Bertoja, Carla Scaroni, Maddalena Martella, Giuseppe Opocher, Alessandra Murgia

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Abstract

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, adrenal glands and pancreas. Methods: We performed a fundus examination and fluorescein and indocyanine green (ICG) angiography in both eyes of a young woman affected by VHL with bilateral pheochromocytoma, retinal angioma, retinal microaneurysms and unusual alterations of the deep retinal layers. A molecular analysis of the VHL gene was carried out. Results: Ophthalmoscopy disclosed in her right eye a small retinal hemangioma, some microaneurysms in both eyes at the posterior pole and multiple, small, whitish, dome-shaped lesions scattered in the retinal pigment epithelium (RPE) of the posterior retina. Fluorescein angiograms revealed in the early phase multiple hyperfluorescent spots that showed progressive discoloration in the late phase of angiography. Some of these spots were ophthalmoscopically undetectable. The late phase of ICG angiography showed some small hyperfluorescent points located at the level of the RPE, and some of them corresponded to the hyperfluorescent spots seen on fluorescein angiography. The molecular analysis revealed the presence of a 'missense' mutation of the VHL gene at nucleotide 683. Conclusions: Alterations in the RPE have never been observed in the VHL syndrome. We describe an unusual case of VHL with a capillary hemangioma associated to diffuse alterations with the RPE of the posterior retina. The possibility exists that these lesions form part of the eye modifications in VHL.

Original languageEnglish
Pages (from-to)615-620
Number of pages6
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Volume238
Issue number7
Publication statusPublished - Jul 2000

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von Hippel-Lindau Disease
Nucleotides
Mutation
Retinal Pigment Epithelium
Angiography
Indocyanine Green
Hemangioma
Fluorescein
Retina
Hereditary Neoplastic Syndromes
Capillary Hemangioma
Ophthalmoscopy
Fluorescein Angiography
Pheochromocytoma
Inner Ear
Missense Mutation
Adrenal Glands
Cerebellum
Genes
Pancreas

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Piermarocchi, S., Lo Giudice, G., Pilotto, E., Bertoja, E., Scaroni, C., Martella, M., ... Murgia, A. (2000). Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease. Graefe's Archive for Clinical and Experimental Ophthalmology, 238(7), 615-620.

Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease. / Piermarocchi, Stefano; Lo Giudice, Giuseppe; Pilotto, Elisabetta; Bertoja, Enrico; Scaroni, Carla; Martella, Maddalena; Opocher, Giuseppe; Murgia, Alessandra.

In: Graefe's Archive for Clinical and Experimental Ophthalmology, Vol. 238, No. 7, 07.2000, p. 615-620.

Research output: Contribution to journalArticle

Piermarocchi, S, Lo Giudice, G, Pilotto, E, Bertoja, E, Scaroni, C, Martella, M, Opocher, G & Murgia, A 2000, 'Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease', Graefe's Archive for Clinical and Experimental Ophthalmology, vol. 238, no. 7, pp. 615-620.
Piermarocchi S, Lo Giudice G, Pilotto E, Bertoja E, Scaroni C, Martella M et al. Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease. Graefe's Archive for Clinical and Experimental Ophthalmology. 2000 Jul;238(7):615-620.
Piermarocchi, Stefano ; Lo Giudice, Giuseppe ; Pilotto, Elisabetta ; Bertoja, Enrico ; Scaroni, Carla ; Martella, Maddalena ; Opocher, Giuseppe ; Murgia, Alessandra. / Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease. In: Graefe's Archive for Clinical and Experimental Ophthalmology. 2000 ; Vol. 238, No. 7. pp. 615-620.
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AU - Scaroni, Carla

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