Cat Eye Syndrome


An autosomal dominant [MIM 115470] condition characterised by vertical iris coloboma—ergo, ‘cat eye’—microphthalmia, pale optic discs, ocular hypertelorism, downward slanting of palpebral fissures, preauricular fistula, anal atresia, umbilical hernia, mental retardation, cardiac and renal defects
Genetics A small extra acrocentric chromosome is typical, possibly from chromosome 14; most have 1+ extra copies of chromosome 22q11