Table I.

Summary of phenotypes for rare ocular diseases of the neural crest, and genes suspected to be involved.

Disease	Phenotype	Genes (Expressed in NC/POM (Y/N)
Axenfeld-Rieger Syndrome	Defects in the iris (polycoria, corectopia), cornea and iridocorneal angle, and posterior embryotoxon; high intraocular pressure.	Pitx2 (Y) Foxc1 (Y)
Peters anomaly	Iridocorneal and corneolenticular adhesions, cataracts and embryotoxon	Pitx3 (N) Foxe3 (N)
Aniridia	Absence of iris or iris hypoplasia.	Pax6 (N)
Nail Patella Syndrome	Optic nerve damage, increased intraocular pressure sometimes, loss of outer neuroretinal tissue.	Lmx1b (Y)
Branchio-Oculo-Facial Syndrome	Craniofacial defects, coloboma, microphthalmia.	Tfap2a (Y)
CHARGE Syndrome	Coloboma, heart deficits, choanal atresia, retarded development, genital defects and ear abnormalities.	Chd7 (N) PBAF (N)
Waardenburg Syndrome	Iris heterochromia, laterally displaced canthus.	Pax3 (Y) Sox10 (Y) MITF (N)
Treacher-Collins Syndrome	Abnormalities in craniofacial bone, problems with the auditory system; eyelid coloboma, palpebral fissures being angled downward and a reduction in eyelashes in medial eyelid region.	Tcof1 (Y) p53 (Y)
Char Syndrome	Facial abnormalities like increased width between the eyes; patent ductus arteriosus.	Tfap2b (Y)