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Encyclopedia > Cat eye syndrome
Coloboma
Classification & external resources
ICD-10 Q10.3, Q12.2, Q13.0, Q14.2, Q14.8
ICD-9 377.23, 743.4, 743.46, 743.52, 743.57
DiseasesDB 29894

A coloboma (also part of the rare Cat Eye syndrome) is the term used to describe a hole in one of the structures of the eye, such as the lens, eyelid, iris, retina, choroid or optic disc. The hole is present from birth and can be caused when a gap between two structures in the eye, which is present early in development in the womb, fails to close up completely before a child is born. A coloboma can occur in one or both eyes. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... A human eye. ... Light from a single point of a distant object and light from a single point of a near object being brought to a focus by changing the curvature of the lens. ... An eyelid is a thin fold of skin and muscle that covers and protects an eye. ... The human iris The iris is the green/grey/brown area. ... Human eye cross-sectional view. ... The choroid, also known as the choroidea or choroid coat, is the vascular layer of the eye lying between the retina and the sclera. ... The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. ... Female internal reproductive anatomy The uterus or womb is the major female reproductive organ of most mammals, including humans. ...


The effects a coloboma has on the vision can be mild or more severe depending on the size and location of the gap. If, for example, only a small part of the iris is missing, vision may be normal, whereas if a large part of the retina or optic nerve is missing, vision may be poor and a large part of the visual field may be missing. This is more likely to cause problems with getting around if it is the lower visual field which is missing. Other conditions can be associated with a coloboma. Sometimes the eye may be reduced in size, a condition called microphthalmos, or there may be glaucoma, nystagmus or strabismus (squint). Human eye cross-sectional view. ... MRI scan of human eye showing optic nerve. ... Nystagmus is rapid involuntary rhythmic eye movement, with the eyes moving quickly in one direction (quick phase), and then slowly in the other (slow phase). ... For the protein Strabismus, see Strabismus (protein) Strabismus, also known as heterotropia, squint, crossed eye, cockeyed, wandering eye,weak eye or wall eyed, is a condition in which the eyes are not properly aligned with each other. ...


Some children with coloboma of the eye also have malformations in other parts of the body. There is a rare condition called CHARGE syndrome, in which coloboma is associated with cleft lip and/or palate, ear abnormalities and hearing impairment, choanal atresia, delays in growth and development, central nervous system anomalies and congenital heart defects. CHARGE syndrome refers to a specific set of birth defects in children. ... Cleft palate is a condition in which the two plates of the skull that form the hard palate (roof of the mouth) are not completely joined. ... Choanal atresia is a congenital defect where the back of the nasal passage is blocked, usually by abnormal bony or membranous tissue. ... A diagram showing the CNS: 1. ... Congenital heart disease is heart disease in the newborn, and includes congenital heart defects, congenital arrythmias, and cardiomyopathies. ...


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  Results from FactBites:
 
Cat Eye Syndrome (694 words)
Cat eye syndrome is a rare chromosomal disorder that may be evident at birth.
However, 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 three or four times (trisomy or tetrasomy) rather than twice in cells of the body.
The name "cat eye syndrome" is derived from a distinctive eye (ocular) abnormality that is present in some affected individuals.
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