Cat-Eye Syndrome
What is Cat-Eye Syndrome?
Cat-eye syndrome is a rare chromosomal disorder caused by the presence of additional extra copies of a certain portion of chromosome 22 (22pter-22q11, the short arm and a small portion of the long arm). Affected individuals might have three (trisomy) or four (tetrasomy) copies instead of the normal two.
The manifestations of the disease vary from person to person, even in between affected members of the same family. Characteristic features include malformations in the skull and/or face, the heart, the kidneys and/or the anal region and mild intellectual deficiency.
Approximately half of the affected individuals present an ocular manifestation characterized by the absence of a portion of ocular tissue. This results in a characteristic appearance that originated the name of the disorder. The region of the eye affected might not be only the eyelid, but also the iris (colored region), the choroid (mid layer of the eye) or the retina (the innermost layer of the eye).
The disorder is treated based in the management of the symptoms that each person presents.
Cat-eye syndrome is a rare chromosomal disorder caused by the presence of additional extra copies of a certain portion of chromosome 22 (22pter-22q11, the short arm and a small portion of the long arm). Affected individuals might have three (trisomy) or four (tetrasomy) copies instead of the normal two.
The manifestations of the disease vary from person to person, even in between affected members of the same family. Characteristic features include malformations in the skull and/or face, the heart, the kidneys and/or the anal region and mild intellectual deficiency.
Approximately half of the affected individuals present an ocular manifestation characterized by the absence of a portion of ocular tissue. This results in a characteristic appearance that originated the name of the disorder. The region of the eye affected might not be only the eyelid, but also the iris (colored region), the choroid (mid layer of the eye) or the retina (the innermost layer of the eye).
The disorder is treated based in the management of the symptoms that each person presents.
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Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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