optic atrophy 7

Term ID

DOID:0111437

Synonyms

• OPA7
• optic atrophy 7 with or without auditory neuropathy

Definition

An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. https://www.ncbi.nlm.nih.gov/pubmed/19327736

References

• MESH:C567833
• OMIM:612989

Ontology

Human Disease   ( DOID:0111437 )