IngentaConnect A sporadic case of von Hippel-Lindau disease with a secondary mac...

Authors: Kreusel, Klaus-Martin¹; Bechrakis, Nikolaos E.²; Neumann, Hartmut P. H.³; Foerster, Michael H.¹

Source: Acta Ophthalmologica Scandinavica, Volume 81, Number 3, June 2003 , pp. 309-310(2)

Abstract:

A 36-year-old male presented with a drop in visual acuity in his left eye to 0.1. Ophthalmoscopy of the affected eye revealed dense, macular, lipid exudates at the posterior pole ( Fig. 1) and a single peripheral capillary retinal haemangioma with only moderately enlarged draining vessels ( Fig. 2). Retinal findings in the right eye were unremarkable. As the patient had reported headache, magnetic resonance tomography (MRT) of the brain was performed. This showed a single infratentorial haemangioblastoma ( Fig. 3) with a solid (arrow) and cystic (arrow) component, thus allowing for a clinical diagnosis of von Hippel-Lindau disease (VHL) ( Neumann 1987). However, the subject's family history was negative for this autosomal-dominant, multi-tumour syndrome. Molecular genetic analysis of the VHL gene (3p25-26) bysscp( Latif et al. 1993) detected a mutation (477 C/G) in the patient's DNA ( Fig. 4, lane 2), but not in his mother's or sister's DNA ( Fig. 4, lanes 3 and 4; wild-type DNA: lane 1). Although a positive family history is present in the majority of VHL cases, the disease can also present sporadically due to a de novo mutation ( Richards et al. 1995; Kreusel et al. 2000). Ruthenium-106 brachytherapy of the haemangioma ( Kreusel et al. 1998) induced complete regression to a choroido-retinal scar ( Fig. 5). During 5 years of follow-up according to current screening recommendations ( Maher et al. 1990), no further haemangioma or other new VHL lesions were detected in the patient.

Keywords: retinal haemangioma; lipid maculopathy; von Hippel-Lindau disease; molecular genetics

Document Type: Research article

DOI: 10.1034/j.1600-0420.2003.00034.x

Affiliations: 1: Augenklinik Berlin-Marzahn, Berlin, Germany 2: Universitätsaugenklinik und Poliklinik Universitätsklinikum Benjamin Franklin, Freie Universität Berlin, Germany 3: Medizinische Klinik, Abt. Nienen - und Hochdruckkrankheiten der Universität Freiburg, Germany

You have access to the full text article on a website external to Ingentaconnect.

Please click here to view this article on InterScience.

You may be required to register and activate access on InterScience before you can obtain the full text. If you have any queries please contact onlinehelp@oxon.blackwellpublishing.com

A sporadic case of von Hippel-Lindau disease with a secondary maculopathy as the presenting sign