This patient who has bilateral corneal 
   opacities has multiple lesions on his body 
   as shown. Blood tests showed raised urea 
   and creatinine

   a. What does the picture show?

   b. What is the diagnosis?

   c. What other ocular signs may be present?

  Click here for answers


 
 
 
 
 
Answers:
This patient who has bilateral corneal opacities has multiple lesions on 
his body as shown. Blood tests showed raised urea and creatinine
 a. What does the picture show?
 
Multiple reddish lesions known as angiokeratoma (purple telantiectatic skin lesions)


 b. What is the diagnosis?

Fabry's disease. 
An X-linked recessive condition caused by a defiency of alpha-galactosidase A. Sufferer tends to get angiokeratoma, fever, excrucitating pain in the extremities and renal failure which is the main cause of death.
 c. What other ocular signs may be present?
    • Corneal verticillata (vortex keratopathy)
    • Cataract
    • Myopia
    • Tortuosus conjunctival and retinal veins
Click here for the main page