What is Cat Eye Syndrome? (Definition)
(Symptoms, Causes & Treatment)
According to Orphanet, Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
The name “cat eye syndrome” comes from a distinctive eye (ocular) abnormality that is present in some affected individuals. This feature consists of partial absence of ocular tissue (coloboma), often affecting both eyes (bilateral).
See below for updated news and information regarding Cat Eye Syndrome including new medical research, treatment options and advancements.
Latest Cat Eye Syndrome Research – Treatment News, Discoveries and Findings
No recent news regarding Cat Eye Syndrome is available.
Clinical Resources: Treatment Therapies & Guidelines
Clinical Trials – Investigational Therapies
For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll Free: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search
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