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

• IRID Syndrome

What is Iridogoniodysgenesis Syndrome? (Definition/Background Information)

• Iridogoniodysgenesis Syndrome (IRID Syndrome) encompasses a group of congenital (genetic) eye disorders that arise from the abnormal development of the neural crest cells (a type of embryonic cells) that form the anterior segment of the eye. This results in iris hypoplasia (underdeveloped iris) and juvenile-onset glaucoma
• Iridogoniodysgenesis Syndrome also forms part of a group of disorders named anterior segment developmental anomalies (ASDA). ASDA refers to developmental disorders involving the eye's anterior segment region. 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
• As Iridogoniodysgenesis Syndrome is a complex and rare condition, individuals diagnosed with IRID Syndrome often require specialized care from ophthalmologists and may undergo various eye examinations and imaging studies to assess the extent of the abnormalities and determine the most appropriate treatment approach
• The management of Iridogoniodysgenesis Syndrome typically involves treating associated conditions, such as glaucoma, to help preserve vision. This may include using medications to lower intraocular pressure or surgical interventions to improve fluid drainage.

Who gets Iridogoniodysgenesis Syndrome? (Age and Sex Distribution)

• Iridogoniodysgenesis 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 Iridogoniodysgenesis Syndrome? (Predisposing Factors)

• A positive family history is a significant risk factor since Iridogoniodysgenesis Syndrome is typically inherited
• Children born to consanguineous partners or spouses have a high risk for this syndrome

It is important to note that having a risk factor does not mean 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 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 Iridogoniodysgenesis Syndrome? (Etiology)

• Iridogoniodysgenesis Syndrome is a genetic disorder that is inherited in an autosomal dominant manner. Chromosomal defects on chromosome 6 and the involvement of the RIEG gene are noted
• Iridogoniodysgenesis Syndrome forms part of a group of conditions that are known as anterior segment developmental anomalies (ASDA)

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

What are the Signs and Symptoms of Iridogoniodysgenesis Syndrome?

The signs and symptoms of Iridogoniodysgenesis Syndrome may vary from one child to another. In most cases, the condition is observed to be progressive and severe. These signs and symptoms include:

• Presence of dark gray or chocolate brown colored eye
• Increased intraocular pressure resulting in early glaucoma, often noted by or before age 10-20 years
• Iris hypoplasia (underdevelopment of the iris)
• Optic neuropathy due to glaucoma
• Both eyes are typically involved
• Other systemic presentations may include:
  • Abnormal development of the upper jaw
  • Absence of teeth or small teeth
  • Inguinal or umbilical hernia
  • Hypospadias in males

How is Iridogoniodysgenesis Syndrome Diagnosed?

The following observations and tests may help diagnose Iridogoniodysgenesis Syndrome:

• Physical examination and medical history evaluation
• Assessment of 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 unique 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 is present, are 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 Iridogoniodysgenesis Syndrome?

The complications of Iridogoniodysgenesis Syndrome may include:

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

Individuals with other associated syndromes may present additional complications.

How is Iridogoniodysgenesis Syndrome Treated?

The treatment measures for Iridogoniodysgenesis 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
• Cyclodestructive procedures for refractory glaucoma
• 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 Iridogoniodysgenesis Syndrome be Prevented?

There are no specific methods or guidelines to prevent Iridogoniodysgenesis 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 Iridogoniodysgenesis Syndrome? (Outcomes/Resolutions)

• The prognosis of Iridogoniodysgenesis Syndrome depends on the severity of the condition and one’s response to treatment. An early diagnosis and prompt medical intervention is crucial for improved outcomes
• Individuals with mild conditions have a 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 Iridogoniodysgenesis Syndrome:

The following DoveMed website link is a helpful resource for additional information:

https://www.dovemed.com/diseases-conditions/glaucoma