Several gene mutations have been identified underlying these anomalies, with the majority of ASD genes encoding transcriptional regulators. In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the<unk><unk> , the biochemical function of these proteins, and their role in development and disease aetiology. The emerging view is that these genes act in concert to specify a population of<unk>  progenitor cells, mainly of neural crest origin, as they migrate<unk> ly around the embryonic optic cup. These same genes then regulate<unk>  cell differentiation to give rise to distinct<unk><unk>  tissues. Development appears critically sensitive to gene dosage, and variation in the normal level of transcription factor activity causes a range of<unk><unk>  anomalies. Interplay between PITX2 and FOXC1 in the development of different<unk><unk>  tissues may partly explain the phenotypic variability and the genetic heterogeneity characteristic of ASD. In the most recent research, the PAX6 gene has been implicated in Peters' Anomaly
Anterior segment mesenchymal dysgenesis
Nasal glial heterotopia
Thyroid dysgenesis
Patulous Eustachian tube
Congenital fourth nerve palsy
Regional odontodysplasia
Persistent thyroglossal duct
Gonadal dysgenesis