Enfermedad de Von Hippel Lindau: estudio familiar

Von Hippel-Lindau disease.

Von Hippel-Lindau Disease

A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activ...

[Von Hippel-Lindau disease].

In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approx...

Angiome rétinien de la maladie de Von Hippel-Lindau

Patient âgé de 28 ans, non consanguin, 2 d'une fratrie de 4, qui consulte pour une baisse d'acuité visuelle bilatérale. L'examen de l'oeil droit trouve une acuité visuelle limité au compté des doigts. Le fond d'oeil met en évidence 2 hémangiomes capillaires rétiniens (RCH): (A, B). L'examen de l'oeil gauche trouve une acuité visuelle de 4/10 sans correction. Le fond d'oeil révèle de multiples h...

[von Hippel-Lindau syndrome].

LABORATORY DATA adrenal changes phaeochromocytoma adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, high levels chromosomal assignment chromosome 11q localization chromosome 3p localization gene, structural-functional anomalies CCND1 (PRAD1) cyclin D1, gene chr.11q13 gene analysis-DNA analysis ST11 (PETS1), gene chr.3p25 VHL von Hippel-Lindau syndrome, gene chr.3p26...