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

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

Document Type: Research Article

DOI: http://dx.doi.org/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

Publication date: June 1, 2003

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