Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease.

Purpose: In von Hippel-Lindau disease (VHL), retinal detachment is often a real threat if the retinal angiomas are left untreated. The aim of this trial was to diagnose and treat capillary angiomas early at an asymptomatic stage.

Methods: Since 1983, we have investigated patients with key lesions and those who are at risk for VHL in a multidisciplinary study.

The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

Objectives: Haemangioblastoma of the CNS occurs as a sporadic entity and as a manifestation of the autosomal dominant von Hippel-Lindau disease with the major additional components retinal angioma, renal cancer, and pheochromocytoma. Genetic testing for germline mutations predisposing to von Hippel-Lindau disease has been available since identification of the VHL tumour suppressor gene. The impact of this testing was evaluated in patients with haemangioblastomas seen in this centre.

High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q.

We have performed a high-resolution linkage analysis for the conserved segment on distal mouse Chromosome (Chr) 8 that is homologous to human Chr 16q. The interspecific backcross used involved M. m.

The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers.

The gene encoding human plakoglobin was mapped to chromosome 17q12-q22. An intragenic restriction fragment length polymorphism was used to localize the plakoglobin gene distal to locus KRT10 and proximal to the marker D17S858. The plakoglobin gene colocalizes with the polymorphic 17q21 marker UM8 on the same cosmid insert.

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels. The disease results from deficiency in hepatic tyrosine aminotransferase (TAT; L-tyrosine:2-oxoglutarate aminotransferase, EC 2.6.