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GTR Home > Conditions/Phenotypes > Late-onset retinal degeneration

Late-onset retinal degeneration

Synonyms
RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). [from OMIM]

Available tests

26 tests are in the database for this condition.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTRP5, MFRP, C1QTNF5
    Summary: C1q and TNF related 5

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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