The abnormalities common to cat eye syndrome were first cataloged in 1898 in Germany.
Cat eye syndrome was first described in 1969 by scientists at the Johns Hopkins Hospital in Baltimore, led by Dr. Alfred Knudson. They named the syndrome after the striking feature of vertical colobomas in the eyes that resemble a cat's eye.
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Cat eye syndrome is also known as Schmid-Fraccaro syndrome and is sometimes referred to by its genetic designation, 22q11.2 deletion syndrome. This condition is characterized by various physical abnormalities, including eye defects that resemble a cat's eye. The name reflects the distinctive appearance of the eyes, but it can also be associated with other features and health issues.
Kearns-Sayre syndrome causes ophthalmoplegia along with loss of pigment in the retina, the light-sensitive membrane lining the eye
Black people get cat eye syndrome more easily than any other race
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the Optic Disk
Eye
Autosomal Dominant
amblyopia
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