ArticleBMJ case reports2024
Von Hippel-Lindau disease with ocular and multiple systemic findings.
Article in BMJ case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Imaging diagnosis of cystic intraparenchymal brain neoplasms.Japanese journal of radiology · 2026Review
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4 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Von Hippel-Lindau is a rare genetic disease that is inherited as an autosomal dominant pattern. Characteristics of this disease include multiple vascularised tumours, particularly cerebellar, retinal and/or visceral. The disease can occur at any age with retinal haemangioblastomas as one of the earliest manifestations. The gold-standard investigation for cerebral haemangioblastomas is MRI or cerebral CT and for retinal haemangioblastomas is fluorescein angiography. We present the case of a woman in her late 30s who reported a primary concern of diminished vision in both eyes for the past 6 months. Fundus examination revealed blurred disc margins, optic nerve head haemangioblastomas and peripheral retinal haemangioblastomas in both eyes. Blood investigations showed polycythaemia. A 24-hour urine protein report showed increased levels. MRI showed multiple cystic lesions in the posterior fossa, on the right optic nerve in the optic canal, multiple cortical cysts in both kidneys and a soft tissue space-occupying lesion.
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