UNIVERSITY OPHTHALMOLOGY CONSULTANTS

 

CASE OF THE MONTH

CASE #21

 

 
WHAT IS THE DIAGNOSIS?


TUBEROUS SCLEROSIS

  Tuberous sclerosis is an autosomal dominant disorder localized to chromosome 9 and characterized by:

  • adenoma sebaceum (facial angiofibromas);
  • mental deficiency;
  • epilepsy-ungula fibromas;
  • retinal or optic nerve astrocytic hamartomas;
  • subependymal nodules;
  • multiple cortical tubers;
  • bilateral renal angiomyolipomas;
  • renal cysts;
  • cardiac rhabdomyomata;
  • calcified cerebral astrocytic hamartomas;
  • white ash-leaf spots on skin;
  • bony changes including cortical thickening of the metatarsal and metacarpal bones.

 NOTE ABOUT MRI FINDINGS: While enhancement of the subarachnoid space is commonly associated  with meningitis, the presence of a phakomatosis increases the likelihood that the enhancement is due to pial
 or arachnoid angiomata.



 RETINAL ASTROCYTIC HAMARTOMA IN TUBEROUS SCLEROSIS

  • arise from inner surface of retina or optic nerve;
  • circular or oval, well circumscribed, white, elevated (although early may be flat and translucent);
  • multiple lesions common;
  • may calcify in a nodular pattern later in life (calcific degeneration);
  • may be cystic;
  • in general, little to no growth, and observation is indicated;
  • occasionally—especially in younger patients—may grow progressively and may cause visual loss via vitreous hemorrhage, intraretinal and/or subretinal exudation. Some of these patients may require photocoagulation of the tumor.

 NOTE: In the Humphrey visual field, the few missed spots located superiorly in the left eye may correlate  with the inferior fundus lesion in this eye.


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