Tay-Sachs Disease

  • Autosomal recessive disorder with deficiency of enzyme hexosaminidase A, which degrades ganglioside
  • Ganglioside piles up in neurons, including retinal ganglion cells, causing cherry red spot
  • Mental, physical, visual deterioration in infancy
  • Death within 4 years of life
  • Progressively impaired vision but hard to recognize because of severe general disturbance of mental function
  • Bright red ("cherry red") fovea in both eyes, which arises because...
  • Fovea has no ganglion cells, and is surrounded by milky halo of retinal ganglion cells stuffed with ganglioside
  • Other lysosomal disorders, including generalized gangliosidosis (GM 1), Sandhoff disease, Gaucher disease, mucolipidosis Types 1 and 2, Niemann-Pick Type A, and multiple sulfatase deficiency, distinguished by lab tests
  • Central retinal artery occlusion, distinguished by not being found in infants, being rarely binocular, and causing acute vision loss
  • Refer patient with suspected Tay-Sachs disease or other congenital metabolic disorders for ophthalmologic evaluation
  • No effective treatment
  • Progressive neurologic deterioration and death within 4 years of life
  • Diagnosis important for prognosis, appropriate palliative care, genetic counseling