Ophthalmic pathology of genotypically confirmed von Hippel Lindau disease type 1
- C M Knapp1,
- G Woodruff2,
- F Roberts3
- 1Department of Ophthalmology, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, PO Box 65, Leicester LE2 7LX, UK
- 2Department of Ophthalmology, Leicester Royal Infirmary, and Glasgow Royal Infirmary, UK
- 3Department of Pathology, Leicester Royal Infirmary, and Glasgow Royal Infirmary, UK
- Correspondence to: Christopher M Knapp Department of Ophthalmology, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, PO Box 65, Leicester LE2 7LX, UK; cmk9{at}le.ac.uk
- Accepted 29 August 2005
Von Hippel Lindau disease (VHL) is a rare1,,2 autosomal dominant disorder. Descriptions of the ophthalmic pathology predate identification of the underlying molecular genetic basis of the disease. We present a case where provisional diagnosis was made on the basis of clinical findings and histopathology, in whom classic clinical features and the genotypic subtype have now been demonstrated.
Case report
A 7 year old boy presented with a visual acuity of 6/60 in the left eye and 6/5 in the right. Examination revealed a left optic disc capillary haemangioblastoma associated with macula oedema (fig 1A⇓ and B). The right eye was healthy. No treatment was offered since the lesion involved the optic nerve. Family history was unremarkable and no systemic abnormalities were found. A provisional diagnosis of VHL was made.
(A) Capillary haemangioblastoma of the left optic disc with macular oedema …
