Importance de l'examen ophtalmologique dans le diagnostic des patients atteints de maladie d'Anderson-Fabry et dans la detection des porteurs sains. [Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection]
Détails
ID Serval
serval:BIB_0101C6084182
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Importance de l'examen ophtalmologique dans le diagnostic des patients atteints de maladie d'Anderson-Fabry et dans la detection des porteurs sains. [Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection]
Périodique
Klinische Monatsblatter fur Augenheilkunde
ISSN
0023-2165 (Print)
Statut éditorial
Publié
Date de publication
05/1991
Volume
198
Numéro
5
Pages
354-7
Notes
Case Reports
English Abstract
Journal Article --- Old month value: May
English Abstract
Journal Article --- Old month value: May
Résumé
A 45-year-old man with Fabry's disease is presented. 27 relatives are examined. Among the different examinations (serum activity of alpha-galactosidase, urinary excretion of trihexosyl ceramide, renal function, ocular examination) ocular examination remains the easiest and cheapest test for detection of heterozygotes. The ocular manifestations of this enzymatic defect are reviewed.
Mots-clé
Corneal Opacity/diagnosis/genetics
Eye Abnormalities/diagnosis/*genetics
Female
Glycogen Storage Disease Type IV/diagnosis/*genetics
*Heterozygote Detection
Humans
Male
Middle Aged
*Ophthalmoscopy
Sex Chromosome Aberrations/diagnosis/*genetics
Vision Tests
*X Chromosome
Pubmed
Web of science
Création de la notice
28/01/2008 13:40
Dernière modification de la notice
20/08/2019 13:23
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