[Fabry disease, an ophthalmo-neuro-dermato-cardio-nephrologic problem].
We want to present a 47-years-old patient suffering of a histologically and biochemically confirmed M. Fabry. Besides the ocular findings, we list the systemic findings and discuss the diagnostic and therapeutic possibilities. We especially want to point out the interdisciplinary collaboration in dealing with this condition.
Senn
B
B
Augenklinik, Kantonsspital St. Gallen.
Capone
A
A
Spina
G
G
Emmenegger
M
M
D002196:Capillaries / Q000473:pathology; D003230:Conjunctival Neoplasms / Q000175:diagnosis / Q000235:genetics*; D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics*; D005134:Eye Neoplasms / Q000175:diagnosis / Q000235:genetics*; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D006391:Hemangioma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D012171:Retinal Vessels / Q000473:pathology