What are the other Names for this Condition? (Also known as/Synonyms)

• CIE (Congenital Iris Ectropion)
• CIE Syndrome
• Congenital Iris Ectropion (CIE)

What is Congenital Iris Ectropion Syndrome? (Definition/Background Information)

• Congenital Iris Ectropion Syndrome (CIE Syndrome) is an inherited eye disorder that arises from the abnormal development of the neural crest cells (a type of embryonic cells) that form the anterior segment of the eye. This typically results in glaucoma at a young age
• The condition results in abnormalities of the iris and eyelids leading to a variety of signs and symptoms. The severity of the vision defects can vary from one individual to another
• The treatment of Congenital Iris Ectropion Syndrome may involve medications and surgery. However, the prognosis may differ on a case-by-case basis but is improved with early effective treatment

Congenital Iris Ectropion Syndrome forms part of a group of disorders named anterior segment developmental anomalies (ASDA). ASDA refer to a group of developmental disorders that involve the anterior segment region of the eye. These disorders are also termed anterior segment dysgenesis (ASD). The anterior segment anatomical region includes the cornea, lens, iris, and aqueous humor that nourishes the eye.

Who gets Congenital Iris Ectropion Syndrome? (Age and Sex Distribution)

• Congenital Iris Ectropion Syndrome is a rare congenital disorder; the presentation of symptoms is noted following the birth of the child
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Congenital Iris Ectropion Syndrome? (Predisposing Factors)

• A positive family history is an important risk factor, since Congenital Iris Ectropion Syndrome is typically inherited
• Children born to consanguineous partners or spouses have a high risk for this syndrome
• The condition is often associated with other systemic genetic conditions including:
  • Neurofibromatosis
  • Prader-Willi syndrome
  • Primary facial hemihypertrophy
  • Rieger anomaly

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Iris Ectropion Syndrome? (Etiology)

• Congenital Iris Ectropion Syndrome is a genetic disorder that is inherited in an autosomal recessive manner. The involvement of PAX6 gene on chromosome 6 is noted
• Congenital Iris Ectropion Syndrome forms part of a group of conditions that are known as anterior segment developmental anomalies

In individuals with anterior segment developmental anomalies (ASDA), frequent disruptions in the aqueous humor production and drainage pathways result in complications, such as increased intraocular pressure, and consequently glaucoma.

What are the Signs and Symptoms of Congenital Iris Ectropion Syndrome?

The signs and symptoms of Congenital Iris Ectropion Syndrome may vary from one child to another. In most cases, the condition is observed to be non-progressive. The signs and symptoms include:

• Increased intraocular pressure (IOP) resulting in early glaucoma
• Iris hypoplasia/abnormalities
• Droopy eyelids may be noted
• Both eyes are typically involved

The signs and symptoms of any associated condition/disorder may be observed.

How is Congenital Iris Ectropion Syndrome Diagnosed?

Congenital Iris Ectropion Syndrome may be diagnosed by the following observations and tests:

• Physical examination and medical history evaluation
• Assessment of the signs and symptoms
• General eye exam
• Fundoscopic (ophthalmoscopic) examination by an eye specialist, who examines the back part of the eye (or the fundus)
• Visual acuity test using a special and standardized test chart (Snellen chart)
• Slit-lamp examination
• Gonioscopy, a painless eye exam using special devices
• Visual evoked potential (VEP) test
• Prenatal tests and newborn screening
• Imaging studies including CT and MRI scans of the head and neck region, if necessary
• Molecular genetic testing

Tests and procedures to diagnose the associated condition, if any present, is important.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Iris Ectropion Syndrome?

The complications of Congenital Iris Ectropion Syndrome may include:

• Emotional stress for the parents and caregivers
• Tunnel vision
• Permanent vision loss from glaucoma
• Decreased quality of life
• Treatment complications

Individuals with other associated syndromes may present additional complications.

How is Congenital Iris Ectropion Syndrome Treated?

The treatment measures for Congenital Iris Ectropion Syndrome may include:

• Symptomatic management
• Decrease intraocular pressure through eye drops and anti-glaucoma medications; however, in a vast majority of cases, surgery is necessary
• Close follow-up and periodic visits to the healthcare provider is important

The treatment measures include treating the symptoms and managing any associated condition/disorder.

How can Congenital Iris Ectropion Syndrome be Prevented?

Currently, there are no specific methods or guidelines to prevent Congenital Iris Ectropion Syndrome since it is a genetic condition.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as anterior segment developmental anomalies

What is the Prognosis of Congenital Iris Ectropion Syndrome? (Outcomes/Resolutions)

• The prognosis of Congenital Iris Ectropion Syndrome depends on the severity of the condition and one’s response to treatment. An early diagnosis and prompt medical intervention is important for optimum outcomes
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications. Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Congenital Iris Ectropion Syndrome:

Please visit our Eye & Vision Health Center for more physician-approved health information:

https://www.dovemed.com/health-topics/vision-center/