title: Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease.
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.
authors.affiliation: Institute of Ophthalmology, University of Padua, Italy. ocufag@ux1.unipd.it
authors.forename: S
authors.initials: S
authors.lastname: Piermarocchi
authors.forename: G
authors.initials: G
authors.lastname: Lo Giudice
authors.forename: E
authors.initials: E
authors.lastname: Pilotto
authors.forename: E
authors.initials: E
authors.lastname: Bertoja
authors.forename: C
authors.initials: C
authors.lastname: Scaroni
authors.forename: M
authors.initials: M
authors.lastname: Martella
authors.forename: G
authors.initials: G
authors.lastname: Opocher
authors.forename: A
authors.initials: A
authors.lastname: Murgia
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D000328:Adult; D015139:Blotting, Southern; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005819:Genetic Markers; D018324:Hemangioma, Capillary / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007208:Indocyanine Green; D008025:Ligases; D020125:Mutation, Missense; D010673:Pheochromocytoma / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D019572:Retinal Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D005819:Genetic Markers; D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human; D007208:Indocyanine Green