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

• Hereditary Sclerocornea

What is Sclerocornea? (Definition/Background Information)

• Sclerocornea is a genetic condition involving the sclera and cornea of both the eyes. Depending on the severity, mild cases present “near normal” vision, while severe cases may present complete corneal opacity (termed Sclerocornea totalis) resulting in vision loss. Sclerocornea may occur sporadically or form part of several genetic syndromes
• The sclera is the white portion of the eye; the cornea is the transparent membrane covering the front portion of the eye, with the function of refracting light. In Sclerocornea, the boundary between the sclera and cornea is not well-defined; there is an overlap between the two eye structures. Depending on the extent of overlap, the corneal clouding (opacity) may vary from peripheral to total
• Sclerocornea 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 Sclerocornea? (Age and Sex Distribution)

• Sclerocornea is a rare condition that is grouped under congenital corneal opacities, with an incidence of about 6 cases per 100,000 population
• The presentation of symptoms may occur 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 Sclerocornea? (Predisposing Factors)

• A positive family history is an important risk factor, since Sclerocornea is typically inherited
• Children born to consanguineous partners or spouses have the greatest risk
• Sclerocornea may be associated with Peter’s anomaly (part of anterior segment developmental anomalies) and other hereditary ocular conditions

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 Sclerocornea? (Etiology)

• Sclerocornea is a genetic disorder that is inherited in an autosomal recessive or autosomal dominant manner. The involvement of several genes, such as FOXE3, PAX6, PITX3, PXDN, RAX, and SOX2 gene, is noted
• Sclerocornea forms part of a group of conditions that are known as anterior segment developmental anomalies. The condition typically develops due to blending of the cornea with the sclera at the boundaries; the overlapping of boundaries is variable, which results in “almost no” vision loss to severe and complete corneal cloudiness causing “total” vision loss (termed Sclerocornea totalis)

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 Sclerocornea?

The signs and symptoms of Sclerocornea may vary from one child to another, and it may be mild or severe. Mild cases are typically asymptomatic.

The signs and symptoms in severe cases may include:

• Bilateral corneal opacity (cloudiness) that is of varying degree
• Blurred vision
• Decreased vision
• Both the eyes are usually involved

If the condition is associated with other syndromes, it may result in developmental anomalies involving the face, limbs, and genitourinary systems.

How is Sclerocornea Diagnosed?

Sclerocornea may be diagnosed by the following observations and tests:

• Physical examination and medical history evaluation
• Assessment of signs and symptoms
• General eye exam with tests that include:
  • 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, 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 Sclerocornea?

The complications of Sclerocornea may include:

• Emotional stress for the parents and caregivers
• Intraocular pressure leading to glaucoma
• Development of amblyopia
• Complete loss of vision
• Individuals with other associated syndromes may present additional complications
• Decreased quality of life
• Post-treatment complications

How is Sclerocornea Treated?

The treatment measures for Sclerocornea may include:

• Symptomatic management
• Surgical intervention may be necessary, including corneal transplant (keratoplasty)
• Decrease intraocular pressure through eye drops and medications
• Correction of refractive errors if any, including the use of eye glasses or contact lenses
• 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 Sclerocornea be Prevented?

Currently, there are no specific methods or guidelines to prevent Sclerocornea 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 Sclerocornea? (Outcomes/Resolutions)

• The prognosis of Sclerocornea depends on the severity of the condition and one’s response to treatment. An early diagnosis and prompt medical intervention can help improve the outcomes
• Nevertheless, most cases are mild, and the outcomes are good, since the condition is non-progressive in nature. Severe cases of Sclerocornea may require surgical intervention, but the prognosis can be good with suitable management
• Lack of treatment for prolonged duration, in case of Sclerocornea totalis, may lead to irreversible vision loss

Additional and Relevant Useful Information for Sclerocornea:

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

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