optic atrophy 5

Term ID

DOID:0111438

Synonyms

• OPA5

Definition

An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. https://www.ncbi.nlm.nih.gov/pubmed/28969390

References

• MESH:C537126
• OMIM:610708

Ontology

Human Disease   ( DOID:0111438 )