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Cat Eye Syndrome

Table of Contents

Cat Eye Syndrome

CES; Schmid-Fraccaro syndrome; Chromosome 22 partial tetrasomy; Inv Dup(22)(Q11)

Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart and/or kidney.

Coloboma of the iris, woman 16 years old

Image by Jmarchn

Summary

Coloboma

Image by National Eye Institute

Coloboma

Image Caption A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. The classical description in medical literature is of a key-hole shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. People with coloboma may have no vision problems or may be blind, depending on severity. It affects about 1 in every 10,000 births.

Image by National Eye Institute

What Is Cat Eye Syndrome?

Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart and/or kidney. In people affected by cat eye syndrome, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of the condition. Most cases of cat eye syndrome occur sporadically in people with no family history of the condition. Treatment is symptomatic.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (2)

LITTLE GIRL WITH RARE COLOBOMA (Cat Eye) | Dr. Paul

Video by paulthomasmd - Dr. Paul/YouTube

CAT EYE SYNDROME: Summary-Symptoms-Signs-Causes-Treatment-Diagnosis-Prognosis

Video by Daily Dose of Medicine/YouTube

2:57

LITTLE GIRL WITH RARE COLOBOMA (Cat Eye) | Dr. Paul

paulthomasmd - Dr. Paul/YouTube

3:23

CAT EYE SYNDROME: Summary-Symptoms-Signs-Causes-Treatment-Diagnosis-Prognosis

Daily Dose of Medicine/YouTube

Causes

Single Sperm Cell / Sperm and Egg

Single Sperm Cell / Unfertilized Human egg

Interactive by TheVisualMD

Single Sperm Cell / Sperm and Egg

Single Sperm Cell / Unfertilized Human egg

1) Single Sperm Cell - A single sperm cell (length is about a third the diameter of the egg). 2) Unfertilized Human egg Of the approximately 300 million sperm cells released in an ejaculation, only 1% will reach the egg and only a single sperm will penetrate the protective layers and successfully fertilize the egg. After the union of sperm and egg, the fusion of genetic material takes place. The fertilized egg, now called a zygote, then divides into two cells after about 30 hours and four cells after 40 hours. As it divides, it is slowly carried down the fallopian tube. When it reaches the 16-cell stage, it is called a morula, and approximately 72 hours after fertilization, it reaches the uterus.

Interactive by TheVisualMD

What Causes Cat Eye Syndrome?

Cat eye syndrome is most often caused by a chromosome abnormality called an inverted duplicated 22. In people with this condition, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of cat eye syndrome.

Source: Genetic and Rare Diseases (GARD) Information Center

Inheritance

Fertility Awareness - Human sperm, Woman's reproductive system, Human egg

Image by TheVisualMD

Fertility Awareness - Human sperm, Woman's reproductive system, Human egg

Fertility Awareness - Human sperm, Woman's reproductive system, Human egg

Image by TheVisualMD

Is Cat Eye Syndrome Inherited?

Rarely, cat eye syndrome is passed down from parent to child. Some of these cases are the result of a balanced translocation in one of the parents. Carriers of a balanced translocation generally do not have any unusual symptoms or health problems; however, they have an increased risk of having children with a chromosome abnormality. In other cases, the parent may have a small extra (duplicate) chromosome made up of genetic material from chromosome 22 in some (mosaicism) or all of their cells. Because the symptoms and severity can vary between family members, the parent may not have any obvious symptoms or may only be mildly affected.

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

LITTLE GIRL WITH RARE COLOBOMA (Cat Eye) | Dr. Paul

Video by paulthomasmd - Dr. Paul/YouTube

LITTLE GIRL WITH RARE COLOBOMA (Cat Eye) | Dr. Paul

Video by paulthomasmd - Dr. Paul/YouTube

What Are the Signs and Symptoms of Cat Eye Syndrome?

Iris coloboma
Anal atresia (opening to the anus is missing)
Skin tags or pits in front of the ears
Unusually shaped ears
Conductive hearing loss
Hypertelorism (widely spaced eyes)
Downward slanting palpebral fissures (outside corners of the eyes point downward)
Strabismus
Cleft lip and/or palate
Congenital heart defects
Urinary tract problems
Skeletal abnormalities
Developmental delay
Mild to moderate intellectual disability

Source: Genetic and Rare Diseases (GARD) Information Center

Diagnosis

Human karyotype: Karyotype Human 46,XY (man)

Image by Doc. RNDr. Josef Reischig, CSc.

Human karyotype: Karyotype Human 46,XY (man)

Human karyotype: Karyotype Human 46,XY (man). Optical microscopy technique: Bright field. Magnification: 4000x (for picture width 26 cm ~ A4 format).

Image by Doc. RNDr. Josef Reischig, CSc.

How Is Cat Eye Syndrome Diagnosed?

A diagnosis of cat eye syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis. This testing may include:

Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes.
FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome.

In some cases, cat eye syndrome can be diagnosed before birth. If suspicious features are observed on prenatal ultrasound, follow up testing such as an amniocentesis or chorionic villus sampling may be ordered to further investigate a diagnosis.

Source: Genetic and Rare Diseases (GARD) Information Center

Treatment

physical therapy

Image by Noun Project - https://thenounproject.com/icon/616 : Author undefined

physical therapy

Physical Therapy - The Noun Project icon from the Noun Project

Image by Noun Project - https://thenounproject.com/icon/616 : Author undefined

How Might Cat Eye Syndrome Be Treated?

Because cat eye syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, congenital heart defects; anal atresia; cleft lip and/or palate; and certain skeletal abnormalities may require surgery. Children with delayed motor milestones (i.e. walking) may be referred for physical therapy or occupational therapy. Special education services are often necessary for children with intellectual disability.

Source: Genetic and Rare Diseases (GARD) Information Center

Prognosis

Prognosis Icon

Image by mcmurryjulie/Pixabay

Prognosis Icon

Image by mcmurryjulie/Pixabay

What Is the Long-Term Outlook for People with Cat Eye Syndrome?

The long-term outlook (prognosis) for people with cat eye syndrome varies from person to person and largely depends on the severity of the condition and the associated signs and symptoms, specially when there are heart or kidney problems. Some babies who are very severely affected die during infancy; however, most people with cat eye syndrome do not have a shortened life expectancy.

Source: Genetic and Rare Diseases (GARD) Information Center

Statistics

How common?

Image by Gerd Altmann

How common?

Image by Gerd Altmann

How Common Is Cat Eye Syndrome?

Around 1 out of 50,000 to one of out 150,000 people in the general population are thought to have cat eye syndrome.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Over 2000 tests are available. Genetic testing may be done for many reasons, from newborn baby screening to diagnosing certain diseases. Read about why you might consider testing.

Chromosome Disorders

Chromosome disorders can be classified into two main types; numerical and structural. Numerical disorders occur when there is a change in the number of chromosomes (more or fewer than 46). Structural chromosome disorders result from breakages within a chromosome. Learn more about chromosome disorders.

Coloboma

Coloboma is when normal tissue in or around the eye is missing from birth. Learn about the different types of coloboma and about causes, symptoms, genetic testing, and treatment.

Retinochoroidal Coloboma

Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina).

Congenital Anomalies

Congenital anomalies, previously referred to as birth defects, are structural (how the body is built) or functional (how the body works) anomalies present at birth that can cause physical disability, intellectual and developmental disorders, and other health problems. Learn about structural anomalies, their causes, their prevention, and their treatments.

Eye Diseases

Some eye problems are minor and go away, while others can cause vision loss or blindness. Learn about the most common diseases of the eye and why early detection is key for healthy vision.

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Cat Eye Syndrome

Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart and/or kidney.

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