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GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 2

Leber congenital amaurosis 2

Synonyms
AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; RPE65-Related Leber Congenital Amaurosis

Summary

RPE65-related Leber congenital amaurosis / early-onset severe retinal dystrophy (RPE65-LCA/EOSRD) is a severe inherited retinal degeneration (IRD) with a typical presentation between birth and age five years. While central vision varies, the hallmark of this disorder is the presence of severe visual impairment with a deceptively preserved retinal structure. Vision is relatively stable in the first decade of life, but begins to decline in adolescence. Most affected individuals are legally blind (visual acuity 20/200 and/or visual fields extending <20 degrees from fixation) by age 20 years. After age 20 years, visual acuity declines further and by the fourth decade all affected individuals are legally blind and many have complete loss of vision (i.e., no light perception). Milder disease phenotypes have been described in individuals with hypomorphic alleles. [from GeneReviews]

Available tests

66 tests are in the database for this condition.

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Clinical tests (66 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65, RPE65
    Summary: retinoid isomerohydrolase RPE65

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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