of deformities, some of which include structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus coloboma, retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia. Treacher Collins syndrome, autosomal dominant syndrome caused by mutation of TCOF1. Coloboma is part of a set of characteristic facies that features craniofacial malformations, such as downslanting eyes, ear anomalies, or hypoplasia of zygomatic bone and jaw (micrognathia). Tilted disc syndrome, an unusual congenital malformation associated with myopic astigmatism characterized by tilting of the intraocular tip of the optic nerve (the optic disc), also known as Fuchs coloboma. Causes Coloboma can be associated with a mutation in the PAX2 gene. Eye abnormalities have been shown to occur in over 90% of children with fetal alcohol syndrome. Diagnosis Typically a coloboma appears oval- or comet-shaped with round end towards the centre. There may be a few vessels (retinal or choroidal) at the edges. The surface may have irregular depression. Treatment Coloboma of the iris may be treated in a number of ways. A simple cosmetic solution is a specialized cosmetic contact lens with an artificial pupil aperture. Surgical repair of the iris defect is also possible. Surgeons can close the defect by stitching in some cases. Vision can be improved with glasses, contact lenses or even laser eye surgery but may be limited if the retina is affected or there is amblyopia. Epidemiology The number of cases is around 5 to 7 per 100,000 births, making it a relatively rare condition. Notable cases Notable people with coloboma include actor John Ritter, model/actress Karolina Wydra, The New York Times columnist Andrew Ross Sorkin, tennis player Arnaud Clément, pop singer songwriter Lachi, and George Soros. Madeleine McCann, a young girl who went missing in Portugal in 2007, does not have the condition. She has a freckle under her pupil. Her unique eye was a large part of her parents media appeal to find her. References External links Micro & Anophthalmic Children's Society Eye diseases Congenital disorders of eyes