Autoszomális domináns
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.
Tünetek és jelek
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.
Mit változtat a diagnózis
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.
Vizsgált gének
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- microphthalmia with brain and digit anomalies
MONDO:0100613Források: [1][2][3][4]
