U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 8

Leber congenital amaurosis 8

Synonyms
CRB1-Related Leber Congenital Amaurosis

Summary

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. [from OMIM]

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.