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familial cavitary optic disc anomaly

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.
Mondo Term and Equivalent IDs
MONDO:0012687:  familial cavitary optic disc anomaly
MESH:C566924: 
Orphanet:464760: 
UMLS:C1969063: