History

O. Haab, a Switzerland ophthalmologist, was the first to describe a syndrome where anal atresia (another possible symptom) combined with Coloboma in 1879 (Bissonnette & Dalens, 2006).  An extra bisatellited marker chromosome was found in patients with CES, in 1965 (Chen, 2006). However, the name “Cat Eye Syndrome” (CES) was created by the two men, W. Schunid from Zurich, Switzerland and M. Fraccaro from Pavia, Italy. They discovered that it was caused by too many of the 22 Chromosome (Bissonnette & Dalens, 2006). Obviously its name came about due to the shape of the pupil (explained in more depth later on in this section).