Epidemiology and genetic research. The disease is inherited in an autosomal dominant manner with incomplete penetrance. Sporadic cases account for about 20%. The gene responsible for the development of Hippel-Lindau disease is mapped on the 3rd chromosome in the interval 3p26-p25. The incidence of the disease in the population is approximately.
Systemic manifestations and diagnostic criteria. Angiomatosis of the retina is detected in approximately 55-70% of clomiphene with Hippel-Lindau disease, hemangioblastoma of the central nervous system - at least 60%, cysts of the kidneys and pancreas - in 33-54%, pheochromocytoma - in 7%. It has been established that the average age of patients at the time of the onset of retinal hemangioblastoma is about 18 years (ranges from 2.8 years to 67 years), hemangioblastoma of the central nervous system is 42 years (from 4 to 70 years), renal cell carcinoma is 43 years (from 31 years to 69 years) and pheochromocytoma - 25 years (from 10 to 56 years).
Visceral lesions may precede changes in the posterior segment of the eyes. G. Browne et al. (1997) reported on 8 patients with Hippel-Lindau disease from three generations of a large Irish family, in whom polycystic kidney disease was the only manifestation of the disease. The diagnosis in these patients was established by identification of a mutation at the 3p25-p26 locus in the chole DNA analysis. B.U. Bender et al. (1997) described two patients in whom Hippel-Lindau disease was verified using molecular genetic studies. The only manifestation of the disease in these patients was pheochromocytoma.
Ophthalmic manifestations. In most children, the disease is detected during examination for strabismus or dispensary examination. Early detection of changes in the fundus is also possible during a preventive examination of children whose parents or close relatives suffer from Hippel-Litzdau disease. Patients over 8 years of clomid usually complain of blurred vision or metamorphopsia.
In the early stages of the disease, ophthalmoscopy can only reveal an aneurysm-like expansion of the vessel on the periphery of the retina. Late neoplasm looks like a small (about 0.3 DR in diameter) pink, slightly protruding tissue.
peripheral and/or macular retinal breaks, neovascular glaucoma. A case is described when a patient with a long-term (more than 17 years) existing angioma developed ossification of the structures of the posterior segment of the eye.
clomiphene examined a 14-year-old girl with Hippel-Lindau disease, whose first manifestation of the disease was total exudative retinal detachment. B-sonography and CT showed no signs of retinal angioma. The diagnosis was confirmed by analysis of the family history and molecular genetic examination of the girl and 9 members of her family (a reading frame mutation was found in the 195th codon of the 3rd exon of the Hippel-Lindau disease gene).