U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Synonyms
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. [from SNOMEDCT_US]

Available tests

21 tests are in the database for this condition.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCOPCT2, ODRMD, OPTX2, Six9, SIX6
    Summary: SIX homeobox 6

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.