GTR Home > Conditions/Phenotypes > Leber's amaurosis

Disease characteristics

Excerpted from the GeneReview: Leber Congenital Amaurosis
Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becomes evident in the first year of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better than 20/400. A characteristic finding is Franceschetti's oculo-digital sign, comprising eye poking, pressing, and rubbing. The appearance of the fundus is extremely variable. While the retina may initially appear normal, a pigmentary retinopathy reminiscent of retinitis pigmentosa is frequently observed later in childhood. The electroretinogram (ERG) is characteristically "nondetectable" or severely subnormal.

Clinical features

  • Intellectual disability
  • Threoninemia
  • Cataract
  • Nystagmus
  • Fundus atrophy
  • Hyperthreoninuria
  • Decreased central vision
  • Sensorineural hearing impairment
  • Keratoconus
  • Pigmentary retinopathy
  • Photophobia
  • Blindness
  • Decreased electroretinogram (ERG) amplitude
  • Eye poking
  • Growth delay
  • Hepatomegaly
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