late-onset retinal degeneration

Term ID

DOID:0060869

Synonyms

• autosomal dominant late-onset retinal degeneration
• LORD

Definition

A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/12944416

References

• GARD:4357
• MESH:C565309
• OMIM:605670
• ORDO:67042

Ontology

Human Disease   ( DOID:0060869 )