[Significance of early ophthalmologic detection of Fabry disease].
A case of cornea verticillata discovered by chance is reported; as a result of this finding, a mother and daughter were found to be heterozygous carriers of Fabry's disease. The ocular and internal symptoms as well as the biochemical analysis are discussed. Early ophthalmologic diagnosis is essential. The patient should be informed of the genetic risk.
D000328:Adult; D002386:Cataract / Q000175:diagnosis* / Q000235:genetics; D002825:Chorioretinitis / Q000175:diagnosis; D003318:Corneal Opacity / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008875:Middle Aged
Die Bedeutung der ophthalmologischen Früherkennung des Morbus Fabry.