Genetic condition awaiting consideration - Lebers Congenital Amaurosis
Leber congenital amaurosis (LCA) is an autosomal recessive condition associated with profound visual impairment from birth.
It is caused by mutations in the genes responsible for the normal retinal development. When these genes are impaired such as in LCA they essentially cause retinal dystrophy (dystrophy=inadequate development).
The retinas in LCA are poorly formed, non-functional and even if some minimal function is present at birth, over time, this is lost (retinal degeneration) as the mechanisms of maintaining the retinas healthy are also severely impaired.
LCA is often accompanied by nystagmus (involuntary eye movement), sluggish or near-absent pupillary responses (pupils normally adjust to the amount of light), photophobia (extreme sensitivity to light), severe hyperopia (farsightedness) and keratoconus (abnormally shaped and thin cornea which causes substantial distortion of vision, with multiple images, streaking and sensitivity to light).
Visual acuity is rarely better than 20/400 (normal visual acuity is 20/20) and, at best, individuals with LCA may only have vision at the level of seeing light and dark or detecting hand motions.
Virtually all patients are registered blind.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 03 August 2012