Diagnosing Cat-Eye syndrome via ‘visual diagnosis’

New research study ongoing directed by Dr. Thomas Liehr of the Jena Institute of Human Genetics in Jena, Germany to learn if diagnosing Cat-Eye syndrome via visual diagnosis is possible.

In individuals with Cat-Eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e., 22pter-22q11) are present four times (partial tetrasomy) rather than twice in cells of the body. In a small number of people with Cat-Eye syndrome, the 22q11 region is present in 3 copies (partial trisomy). The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. This defect, known as a coloboma, usually appears as a cleft or gap in the iris below the pupil, and the elongated pupil therefore resembles the appearance of a cat’s eye.

From researcher Dr. Liehr: As you know, it is often difficult to provide a diagnosis for a young patient with some clinical signs and symptoms of a genetic disorder. The easiest way would be if one could do a kind of computer-aided ‘visual diagnosis’. This has already been done successfully by our group with patients with Emanual and Pallister-Killian Syndromes. A new research project is currently underway at the Institute of Human Genetics in Jena with regard to Cat-Eye syndrome and we ask for your help. Our team is looking for families willing to provide portrait photos of their children diagnosed with Cat-Eye syndrome. The great thing is that the contributors can determine who can see the original photos, because ultimately every photo is digitally processed and broken down into non-visual data. The aim of this project is to record typical facial features of all Cat-Eye syndrome patients, and only this anonymized data is used for later inquiries. In short – patient anonymity is guaranteed 100%. Further information can be found under the link below and everyone can register there and upload pictures. It is also possible to send me pictures directly that I add to the system. https://fs27.formsite.com/Face2Gene/fvshgv9vv0/index.html

Thank you for your consideration.

Dr. Thomas Liehr Universitätsklinikum Jena Institut für Humangenetik Address: Am Klinikum 1, Haus F2, Ebene 20, 07747 Jena, Germany

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