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]
Details
Serval ID
serval:BIB_0101C6084182
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
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]
Journal
Klinische Monatsblatter fur Augenheilkunde
ISSN
0023-2165 (Print)
Publication state
Published
Issued date
05/1991
Volume
198
Number
5
Pages
354-7
Notes
Case Reports
English Abstract
Journal Article --- Old month value: May
English Abstract
Journal Article --- Old month value: May
Abstract
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.
Keywords
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
Create date
28/01/2008 12:40
Last modification date
20/08/2019 12:23
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