ArticleInvestigative ophthalmology & visual science2010
Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?Molecular genetics and genomics : MGG · 2022Pooled it
- Von Hippel-Lindau disease: pathophysiological and clinical advances.Familial cancer · 2026Review
- Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.Progress in retinal and eye research · 2025Review
- A New Era of Management of Von Hippel-Lindau Disease-Associated Tumors With Belzutifan.Clinical journal of oncology nursing · 2025Article
- Article
- Comprehensive characterization and building of National Registry of von Hippel-Lindau disease in Brazil.Molecular genetics & genomic medicine · 2023Article
- The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.BMC urology · 2022Article
- Review
- Retinal hemangioblastoma in a patient with Von Hippel-Lindau disease: A case report and literature review.Frontiers in oncology · 2022Article
- The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population.Frontiers in genetics · 2020Article
- Ocular Manifestations of von Hippel-Lindau Disease.Cureus · 2019Review
- Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.Cancer research and treatment · 2016Article
- Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.Chinese journal of cancer · 2016Article
- Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.BMC medical genetics · 2016Article
- Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Journal of human genetics · 2014Article
- Signaling pathways triggered by oxidative stress that mediate features of severe retinopathy of prematurity.JAMA ophthalmology · 2013Article
- Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease.Ophthalmology · 2012Article
- Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma.Histology and histopathology · 2012Review
- Optic disc and peripapillary tumors.Taiwan journal of ophthalmologyReview
- Von Hippel-Lindau Disease and the Eye.Journal of ophthalmic & vision researchReview
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
purposevon Hippel-Lindau (VHL) disease is a dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. This study was conducted to establish genotype-phenotype correlations between the positions of disease-causing missense mutations and the ocular phenotypes of VHL disease.
methodsParticipants with clinically defined VHL disease and documented germline missense mutations in the VHL gene were identified in a cross-sectional study (n=412). Statistical analysis was used to correlate the position of the missense mutation in either the alpha- or beta-domain of the VHL protein with the ocular disease phenotype.
resultsMissense mutations among study participants were located in 47 of the 213 possible codons in the VHL gene. Almost all mutations (98.5%) were located in one of two structural domains of the VHL protein: the alpha- and beta-domains. alpha-Domain mutations were significantly associated with a higher prevalence of retinal capillary hemangioblastomas (RCHs) compared with the beta-domain mutations (P=0.016). Among patients with RCHs, the prevalence of the lesions in the juxtapapillary position was also significantly higher in patients with alpha-domain mutations (P=0.0017). Conversely, beta-domain mutations correlated with a higher prevalence of peripherally located RCHs (P=0.0104).
conclusionsThe location of missense mutations in the VHL gene correlates significantly with the prevalence and phenotype of ocular disease, and as such, influences the risk of visual loss in affected patients. These genotype-phenotype correlations can assist in the prognostic counseling and follow-up of VHL patients and may provide a basis for molecular inferences on ocular VHL disease pathogenesis.
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