Macular dystrophy with or without cone dysfunction

Summary

Macular dystrophy with or without cone dysfunction (MDCD) is a progressive autosomal recessive disorder characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction (Bauwens et al., 2024). [from OMIM]

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

SAMD7
1 test
Also known as: MDCD, SAMD7
Summary: sterile alpha motif domain containing 7

Reviews

Clinical resources

Molecular resources

Consumer resources

MedlinePlus

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.