Retinal angiomatosis and von Hippel-Lindau disease

• Published in: Graefe's archive for clinical and experimental ophthalmology 2000-11, Vol.238 (11), p.916-921
• Main Authors: KREUSEL, Klaus-Martin, BECHRAKIS, Nikolaos E, HEINICHEN, Thomas, NEUMANN, Luitgard, NEUMANN, Hartmut P. H, FOERSTER, Michael H
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Biological and medical sciences; Blotting, Southern; Child; DNA - analysis; Female; Fluorescein Angiography; Fundus Oculi; Genes, Tumor Suppressor - genetics; Hemangioma, Capillary - complications; Hemangioma, Capillary - diagnosis; Humans; Ligases; Male; Medical sciences; Middle Aged; Ophthalmology; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proteins - genetics; Retinal Neoplasms - complications; Retinal Neoplasms - diagnosis; Retinopathies; Tumor Suppressor Proteins; Ubiquitin-Protein Ligases; von Hippel-Lindau Disease - complications; von Hippel-Lindau Disease - diagnosis; von Hippel-Lindau Disease - genetics; Von Hippel-Lindau Tumor Suppressor Protein
• ISSN: 0721-832X; 1435-702X
• DOI: 10.1007/s004170000200

To evaluate the significance of angioma number (single or multiple) for the presence of von Hippel-Lindau (VHL) disease in patients presenting with capillary retinal angioma. Forty-one nonrelated patients presenting with capillary retinal angioma were evaluated. An ophthalmic workup, screening for other organ lesions, and molecular genetic screening for a mutation of the VHL gene was performed. The diagnosis of VHL was made on the basis of the personal and family history, the presence of other VHL-associated organ lesions, or the presence of a mutation of the VHL gene. Thirteen patients (32%) presented with a single angioma and 28 patients (68%) presented with multiple angiomas. In 81% of all patients, VHL could be diagnosed. Diagnosis of VHL could be readily made by the personal or family history in 51% of all patients. In another 27% of all patients, VHL disease was evidenced by screening for other VHL-associated lesions. In two patients (3%) VHL could be diagnosed by molecular genetics only. All patients with multiple retinal angiomas had VHL disease and, in 38% of patients with a single angioma, VHL was present. Reasons for a missing family history in patients with VHL disease were the presence of a de novo mutation (15% of VHL patients) or clinical anticipation of VHL disease (18% of VHL patients). The presence of multiple retinal angiomas strongly suggests VHL disease, which, however, can be obscured by presence of a de novo mutation or by clinical anticipation of VHL disease in affected families. A single retinal angioma may be sporadic as well as the presenting sign of VHL. Diagnosis and screening for this multitumor syndrome is substantially supported by molecular genetics.