PMID- 28972023
DCOM- 20190401
LR  - 20190401
IS  - 1468-2079 (Electronic)
IS  - 0007-1161 (Linking)
VI  - 102
IP  - 7
DP  - 2018 Jul
TI  - Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von
      Hippel-Lindau disease.
PG  - 942-947
LID - 10.1136/bjophthalmol-2017-310884 [doi]
AB  - BACKGROUND AND AIMS: We aimed to determine the frequency of von Hippel-Lindau
      disease (vHL) as the underlying cause of retinal hemangioblastoma and to estimate
      retinal hemangioblastoma incidence and prevalence in a national cohort study.
      METHODS: Through the national patient register and vHL research database, we
      identified 81 patients diagnosed with a retinal hemangioblastoma in Denmark
      between 1977 and 2014. Consent was obtained for 54 living and 10 deceased
      patients with retinal hemangioblastoma. For each participant, we collected
      medical records and family information. Almost all (63 of 64) participants were
      or had previously been tested for mutations in the VHL gene. RESULTS: Overall,
      84% of the participants (54 of the 64) had vHL. Compared with the non-vHL
      patients, the vHL patients had their first retinal hemangioblastoma at a younger 
      age (22.5 vs 40 years), and were more likely to have an asymptomatic first
      hemangioblastoma (80% vs 20%). Overall, 76% (41 of 54) of the vHL patients had a 
      family history of vHL, while none of the patients without vHL did. Despite the
      rarity of the disease, on average more than eight new tumours are diagnosed each 
      year due to multiple tumour development in vHL patients. The estimated prevalence
      of patients with retinal hemangioblastoma was up to 1 in 73 080 individuals.
      CONCLUSION: In the first national study in which almost all participants were
      genetically tested, vHL was the underlying cause of retinal hemangioblastoma in
      84% of cases; more often than previously reported. We recommend that genetic and 
      clinical vHL screening should be performed in all patients with retinal
CI  - (c) Article author(s) (or their employer(s) unless otherwise stated in the text
      of the article) 2018. All rights reserved. No commercial use is permitted unless 
      otherwise expressly granted.
FAU - Binderup, Marie Louise Molgaard
AU  - Binderup MLM
AD  - Department of Cellular and Molecular Medicine, University of Copenhagen,
      Copenhagen, Denmark.
FAU - Stendell, Anne-Sophie
AU  - Stendell AS
AD  - Department of Cellular and Molecular Medicine, University of Copenhagen,
      Copenhagen, Denmark.
FAU - Galanakis, Michael
AU  - Galanakis M
AD  - Department of Cellular and Molecular Medicine, University of Copenhagen,
      Copenhagen, Denmark.
FAU - Moller, Hans Ulrik
AU  - Moller HU
AD  - Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.
AD  - Department of Ophthalmology, Viborg Hospital, Viborg, Denmark.
FAU - Kiilgaard, Jens F
AU  - Kiilgaard JF
AD  - Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark.
FAU - Bisgaard, Marie Luise
AU  - Bisgaard ML
AD  - Department of Cellular and Molecular Medicine, University of Copenhagen,
      Copenhagen, Denmark.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20170928
PL  - England
TA  - Br J Ophthalmol
JT  - The British journal of ophthalmology
JID - 0421041
RN  - EC (Von Hippel-Lindau Tumor Suppressor Protein)
RN  - EC 6.3.2.- (VHL protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Cohort Studies
MH  - Databases, Factual
MH  - Denmark/epidemiology
MH  - Female
MH  - Germ-Line Mutation
MH  - Hemangioblastoma/*epidemiology
MH  - Humans
MH  - Incidence
MH  - Male
MH  - Middle Aged
MH  - Prevalence
MH  - Registries
MH  - Retinal Neoplasms/*epidemiology
MH  - Von Hippel-Lindau Tumor Suppressor Protein/genetics
MH  - Young Adult
MH  - von Hippel-Lindau Disease/*epidemiology/genetics
OT  - *Retinal hemangioblastoma
OT  - *genetic screening
OT  - *incidence
OT  - *prevalence
OT  - *von Hippel-Lindau
COIS- Competing interests: None declared.
EDAT- 2017/10/04 06:00
MHDA- 2019/04/02 06:00
CRDT- 2017/10/04 06:00
PHST- 2017/06/15 00:00 [received]
PHST- 2017/08/15 00:00 [revised]
PHST- 2017/09/09 00:00 [accepted]
PHST- 2017/10/04 06:00 [pubmed]
PHST- 2019/04/02 06:00 [medline]
PHST- 2017/10/04 06:00 [entrez]
AID - bjophthalmol-2017-310884 [pii]
AID - 10.1136/bjophthalmol-2017-310884 [doi]
PST - ppublish
SO  - Br J Ophthalmol. 2018 Jul;102(7):942-947. doi: 10.1136/bjophthalmol-2017-310884. 
      Epub 2017 Sep 28.