| Autor: |
Webster, Andrew R., Maher, Eamonn R., Moore, Anthony T. |
| Předmět: |
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| Zdroj: |
Archives of Ophthalmology; Mar1999, Vol. 117 Issue 3, p371, 8p |
| Abstrakt: |
Objectives: To examine the epidemiologic and clinical characteristics of the ocular manifestations of yon Hippel-Lindau (VHL) disease and to detect phenotypegenotype relationships of disease severity. Design: A cross-sectional clinical and molecular genetic study. Patients and Methods: One hundred eighty-three affected VHL gene carriers from 81 unrelated pedigrees were interviewed and examined; clinical data were also obtained from 12 living and 39 deceased affected relatives. DNA extracted from venous blood was used to identify mutations in the VHL gene. Results: The prevalence of ocular angiomatosis (hemangioblastomas) in von Hippel-Lindau disease was 67.8% (124/183), and the mean number of angiomas in gene carriers was 1.85 (range, 0-15). Neither prevalence nor angioma count increased with age. Severe vision loss in 1 or both eyes was associated with presentation at a young age. The cumulative probability of incurring vision loss by age 50 years was 35% in all gene carriers, 55% in those with angiomatosis, and significantly worse in those coming to us with symptoms. Angiomas were nonrandomly distributed in the fundus, occurring rarely at the posterior pole (1% of retinal tumors) and commonly on the optic disc (8% of eyes) and supratemporal retina. Complications of ocular angiomatosis included disc and retinal neovascularization; secondary angioma formation; retinal detachment, exudation, and membrane; and retinal and vitreous hemorrhage. Germ-line VHL mutations were detected in 161 of 183 patients and 69 (85%) of 81 pedigrees and included deletions (n = 16), missense (mutations causing amino acid substitutions; n = 24), nonsense (premature stop codons; n = 15), frameshift (n= 13), and splice-site (n = 1) mutations. There was no association between the type or position of mutation and the severity of ocular angiomatosis. Conclusions: A systematic clinical description of a large cohort of VHL gene carriers further defines the ocular phenotype. There is no... [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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