Intrafamilial variability of ocular manifestations of von Hippel-Lindau disease

Randy Christopher Bowen; H. Culver Boldt; Robert F Mullins; Matthew G Field; Louisa M Affatigato; Jeremy M Hoffmann; James C Folk; Karen M Gehrs; Ian C Han; Elliott H Sohn; Stephen R Russell; Edwin M Stone; Budd A Tucker; Elaine M Binkley

doi:10.1016/j.oret.2021.08.005

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Intrafamilial variability of ocular manifestations of von Hippel-Lindau disease

Journal article

Peer reviewed

Intrafamilial variability of ocular manifestations of von Hippel-Lindau disease

Randy Christopher Bowen, H. Culver Boldt, Robert F Mullins, Matthew G Field, Louisa M Affatigato, Jeremy M Hoffmann, James C Folk, Karen M Gehrs, Ian C Han, Elliott H Sohn, …

Ophthalmology retina, Vol.6(1), pp.89-91

08/17/2021

DOI: 10.1016/j.oret.2021.08.005

PMCID: PMC9367018

PMID: 34416425

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Abstract

In this retrospective cohort study, we describe intrafamilial phenotypic variability of retinal hemangioblastoma (RH) in families with von Hippel-Lindau (VHL) disease. Patients with molecularly-confirmed VHL evaluated at our institution were identified and records reviewed. For individuals with sufficient follow up and imaging (n=27), number and location of RHs at the initial and most recent follow up visits were recorded along with treatment method and systemic manifestations. A strategy for zonal classification of RH location was used. Intrafamilial phenotypic variation was identified in 3 families. Intrafamilial phenotypic variability of RH exists between family members with VHL with the same genetic mutation.

phenotypic variability

Retinal hemangioblastoma

von Hippel-Lindau

Details

Title: Subtitle: Intrafamilial variability of ocular manifestations of von Hippel-Lindau disease
Creators: Randy Christopher Bowen - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
H. Culver Boldt - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Robert F Mullins - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Matthew G Field - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Louisa M Affatigato - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Jeremy M Hoffmann - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
James C Folk - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Karen M Gehrs - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Ian C Han - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Elliott H Sohn - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Stephen R Russell - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Edwin M Stone - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Budd A Tucker - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Elaine M Binkley - University of Iowa, Department of Ophthalmology and Visual Sciences, Iowa City, IA, USA
Resource Type: Journal article
Publication Details: Ophthalmology retina, Vol.6(1), pp.89-91
DOI: 10.1016/j.oret.2021.08.005
PMID: 34416425
PMCID: PMC9367018
NLM abbreviation: Ophthalmol Retina
ISSN: 2468-6530
eISSN: 2468-6530
Publisher: Elsevier Inc
Grant note: DOI: 10.13039/100005242, name: Heed Ophthalmic Foundation
Language: English
Date published: 08/17/2021
Academic Unit: The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9984122571302771

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