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Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22 .
Furthermore, the lack of tissue in Caitin's eye gives her a "cat-like" look. See more photos of Caitin: It is believed that only 1 out of 150,000 people are diagnosed with the syndrome.
Leukocoria (also white pupillary reflex) is an abnormal white reflection from the retina of the eye. Leukocoria resembles eyeshine , but leukocoria can also occur in animals that lack eyeshine because their retina lacks a tapetum lucidum .
The Cat eye syndrome (CES), also termed the Schmid–Fraccaro syndrome, is a severe disorder in which individuals have multiple birth defects such as congenital heart abnormalities, renal malformations, craniofacial anormalies, male genital anomalies, skeleton defects, borderline to moderately severe mental retardation, and cat-like downward ...
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome
n/a Ensembl ENSG00000093072 n/a UniProt Q9NZK5 n/a RefSeq (mRNA) NM_001282225 NM_001282226 NM_001282227 NM_001282228 NM_001282229 NM_017424 NM_177405 n/a RefSeq (protein) NP_001269154 NP_001269155 NP_001269156 NP_001269157 NP_001269158 NP_803124 n/a Location (UCSC) Chr 22: 17.18 – 17.26 Mb n/a PubMed search n/a Wikidata View/Edit Human Cat eye syndrome critical region protein 1 is a protein ...
Cherry eye results from a defect in the retinaculum which is responsible for anchoring the gland to the periorbita. This defect causes the gland to prolapse and protrude from the eye as a red fleshy mass. [3] Problems arise as sensitive tissue dries out and is subjected to external trauma [3] Exposure of the tissue often results in secondary ...
Asteroid hyalosis is a degenerative condition of the eye involving small white opacities in the vitreous humor. [1] It is known to occur in humans, dogs, cats, horses, and chinchillas. [2] Clinically, these opacities are quite refractile, giving the appearance of stars shining in the night sky—except that ocular asteroids are often quite mobile.