Familial cavitary optic disc anomaly

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Familial cavitary optic disc anomaly

ORPHA:464760Morphological anomaly

Also called Familial CODA

What it is

A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adolescent, Adult
Inheritance
Autosomal dominant
Classified as
Morphological anomaly

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

MMP19Disease-causing germline mutation(s)

ICD-10 codes

Q14.2filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MONDO 0012687OMIM 611543UMLS C1969063

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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