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Start free with EleplanIsolated microphthalmia-anophthalmia-coloboma
ORPHA:2542Clinical group
Also called Isolated MAC
What it is
A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Classified as
- Clinical group
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.
Genes reported in subtypes
Orphanet records these genes on 1 more specific entry under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
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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