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Condition report · Ophthalmological

BMP4-Related Microphthalmia and Anophthalmia

An inherited condition in which one or both eyes do not develop fully before birth, so they are small or absent, sometimes with differences in the brain. It is caused by changes in one copy of the BMP4 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal dominant

Caused by changes in one copy of BMP4, a signalling gene involved in early eye development. Variants may be new in the child or inherited, and severity varies, with parents sometimes carrying the change with few or no eye signs.

Signs and symptoms

Small eyes (microphthalmia), absent eyes (anophthalmia) or a gap in eye structures (coloboma), affecting one or both sides. Some people also have neurological abnormalities. Parents who carry the change may have no or different eye findings.

What a diagnosis changes

Specialist eye care and vision support. Genetic counselling and examination or testing of parents can guide recurrence risk, since a parent can carry the change with few or no eye signs.

Genes analysed

Includes 1 related subtype ↓
  • microphthalmia with brain and digit anomalies
MONDO:0100613Sources: [1][2][3][4]

References

  1. Williamson KA, FitzPatrick DR, 2015. The genetic architecture of microphthalmia, anophthalmia and coloboma. European journal of medical genetics
  2. Slavotinek A, 2019. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Human genetics
  3. Nishina S, Anzai H, Yoshida T, Koyanagi Y, Kamada S, Kato K et al., 2026. Molecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia. Ophthalmology science
  4. Li B, Pu Z, Liao K, Du Y, Tan G, Nawy S et al., 2024. Overexpression of Bmp4 induces microphthalmia by disrupting embryonic neural retina. Neurobiology of disease

Other ophthalmological conditions

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