Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a rare inherited condition caused by defects in one of a number of different genes which causes severe tunnel vision.

What is Leber congenital amaurosis (LCA)?

LCA is a type of inherited retinal condition (with similarities to retinitis pigmentosa). It affects about 1 in 80,000 people and is the most common form of inherited sight loss in children. LCA causes the specialised light-sensing photoreceptor cells at the back of the eye to stop working properly which causes vision loss.

What are the symptoms of LCA?

  • Poor and declining peripheral vision (tunnel vision)
  • Night blindness
  • Shaking eyes (nystagmus)
  • Poor pupil reactions

What causes LCA?

There are at least 20 different forms of LCA (type 1 through to type 20) that have currently been identified. Each type is caused by a defect in a different gene important for normal visual function, these genes include RPE65 (LCA 2); AIPL1 (LCA 4); CEP290 (LCA 10) and RDH12 (LCA 13). 

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