Document Detail

[Von Hippel-Lindau disease: family study].
MedLine Citation:
PMID:  23058196     Owner:  NLM     Status:  MEDLINE    
CASE REPORT: The case of 5 members of a family who suffer from Von Hippel-Lindau disease (VHL) is presented. It is shown that retinal capillary hemangioma was the main ophthalmic symptom, with hemovitreous and tractional retinal detachment as the main complications.
DISCUSSION: VHL disease is rare, but very serious, even fatal, thus it is important to obtain an early diagnosis by ophthalmoscopy, in order to change the visual prognosis and life expectancy, not only for the patient, but also for the family.
A B González Escobar; M J Morillo Sánchez; J M García-Campos
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Publication Detail:
Type:  Case Reports; English Abstract; Journal Article     Date:  2012-06-02
Journal Detail:
Title:  Archivos de la Sociedad Española de Oftalmología     Volume:  87     ISSN:  1989-7286     ISO Abbreviation:  Arch Soc Esp Oftalmol     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-12     Completed Date:  2013-03-28     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  1304603     Medline TA:  Arch Soc Esp Oftalmol     Country:  Spain    
Other Details:
Languages:  spa     Pagination:  368-72     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.
Servicio de Oftalmología, Hospital Universitario Virgen de la Victoria, Málaga, España.
Vernacular Title:
Enfermedad de Von Hippel Lindau: estudio familiar.
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MeSH Terms
Adrenal Gland Neoplasms / genetics
Brain Stem Neoplasms / genetics
Cerebellar Neoplasms / genetics
Early Diagnosis
Family Health
Hemangioblastoma / genetics
Hemangioma, Capillary / complications,  genetics*,  surgery
Kidney Neoplasms / genetics
Light Coagulation
Middle Aged
Neoplasms, Multiple Primary / genetics
Pheochromocytoma / genetics
Retinal Detachment / etiology
Retinal Neoplasms / complications,  genetics*
Tomography, Optical Coherence
Vitreous Hemorrhage / etiology,  surgery
Young Adult
von Hippel-Lindau Disease / diagnosis,  genetics*,  pathology

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