Parents

Mutations in the OTX2 can lead to various organ malformations.
The most frequent malformation consists in microphthalmia (small eye) and/or anophthalmia (absent eye) (M/A). The prevalence of M/A is around 1 per 10.000 birth and OTX2 is one of the most frequently involved genes.
M/A can be isolated or associated with other abnormalities such as short stature and craniofacial malformations involving the ears, mouth and mandible.
OTX2 mutations are dominantly inherited, meaning that a mutated patient has 50% of risk to transmit the mutation.