Article Text

PDF
Ophthalmic pathology of genotypically confirmed von Hippel Lindau disease type 1
  1. C M Knapp1,
  2. G Woodruff2,
  3. F Roberts3
  1. 1Department of Ophthalmology, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, PO Box 65, Leicester LE2 7LX, UK
  2. 2Department of Ophthalmology, Leicester Royal Infirmary, and Glasgow Royal Infirmary, UK
  3. 3Department of Pathology, Leicester Royal Infirmary, and Glasgow Royal Infirmary, UK
  1. 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

Statistics from Altmetric.com

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.

Figure 1

 (A) Capillary haemangioblastoma of the left optic disc with macular oedema …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.