[HTML][HTML] Von Hippel-Lindau disease and the eye

S Karimi, A Arabi, T Shahraki, S Safi - Journal of ophthalmic & …, 2020 - ncbi.nlm.nih.gov
Retinal hemangioblastoma (also referred to as retinal capillary hemangioma) is a benign
lesion originating from the endothelial and glial components of the neurosensory retina and …

Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease

S Piermarocchi, GL Giudice, E Pilotto, E Bertoja… - Graefe's archive for …, 2000 - Springer
Abstract Background: von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome in
which affected individuals are at risk of developing tumors in multiple organs, including …

[HTML][HTML] von Hippel-Lindau syndrome: genetic study of case with a rare pathogenic variant with optic nerve hemangioblastoma, a rare phenotypic expression

SDF Boratto, PAS Cardoso, DG Priolli… - Frontiers in …, 2020 - frontiersin.org
von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with
high penetrance and variable phenotypic expression caused by variants in the VHL gene …

Von Hippel Lindau disease

MK Khare, R Varma - Indian Journal of Ophthalmology, 1988 - journals.lww.com
Abstract Von Hippel Lindan disease is a rare congenital vascular malformation afflicting the
retinal and central nervous system blood vessels. A boy aged 12 years suffering from this …

[HTML][HTML] A rare Von Hippel–Lindau disease that mimics acute myelitis: case report and review of the literature

H Jiang, Y Shi, J Wang, B Tang, J Wang, Z Peng… - Neurological …, 2011 - Springer
Abstract Von Hippel–Lindau disease (VHL) comprises a series of complicated clinical
manifestations. We hereby report one unique case of VHL with a natural history that mimics …

von Hippel–Lindau disease: update on pathogenesis and systemic aspects

ME Aronow, HE Wiley, A Gaudric, V Krivosic, MB Gorin… - Retina, 2019 - journals.lww.com
Purpose: To provide an update summarizing the biologic pathways governing von Hippel–
Lindau (VHL) disease pathogenesis and to provide an overview of systemic manifestations …

[HTML][HTML] More than it meets the eye! Vision loss as a presenting symptom of von Hippel–Lindau disease

AV Nair, A Vijayaraghavan, PT Alexander… - Journal of Pediatric …, 2020 - journals.lww.com
Optic neuritis has many mimics. Careful history and fundus examination are paramount in
making the correct diagnosis. Here we present a case of bilateral vision loss in a 15-year-old …

Clinical course of retrobulbar hemangioblastomas in von Hippel–Lindau disease

CB Meyerle, SS Dahr, NM Wetjen… - Ophthalmology, 2008 - Elsevier
OBJECTIVE: To report clinical findings of rare retrobulbar optic nerve hemangioblastomas
associated with von Hippel–Lindau disease (VHL). DESIGN: Retrospective observational …

Síndrome de Von Hippel-Lindau: uma abordagem diagnóstica, evolução clínica e revisão

MB de Carvalho Macedo, DL Silva… - … Journal of Health …, 2023 - ojs.brazilianjournals.com.br
Introdução: A doença de Von Hippel-Lindau é uma síndrome rara de neoplasias múltiplas
com herança autossômica dominante associada à mutação do gene VHL, um gene …

[HTML][HTML] Combined therapy guided by multimodal imaging of fifteen retinal capillary hemangioblastomas in a monocular Von Hippel-Lindau syndrome case report

J Guo, L Du, P Zhou, X Guo, F Dai, X Jin - BMC ophthalmology, 2022 - Springer
Background To report the multimodal imaging and treatment of fifteen retinal capillary
hemangioblastomas (RCHs) associated with Von Hippel-Lindau syndrome in a monocular …