GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 8

Summary

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.

Genes See tests for all associated and related genes

  • Also known as: LCA8, RP12, CRB1
    Summary: crumbs 1, cell polarity complex component

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