Microphthalmia–dermal aplasia–sclerocornea syndrome

Microphthalmia–dermal aplasia–sclerocornea syndrome is a rare genetic disorder characterized by a combination of eye abnormalities, skin abnormalities, and other physical and developmental problems.

Symptoms

The most common symptoms of Microphthalmia–dermal aplasia–sclerocornea syndrome include:

• Microphthalmia: This is a condition in which one or both eyes are abnormally small. In some cases, the eye may appear to be completely missing; however, even in these cases, some residual eye tissue is generally present. Such tissue may be visible only on ultrasound examination.
• Dermal aplasia: This is a condition characterized by the absence of certain layers of skin, resulting in areas of missing skin or abnormal skin growth.
• Sclerocornea: This is a condition in which the clear front surface of the eye (the cornea) becomes opaque and resembles the white part of the eye (the sclera).

Causes

Microphthalmia–dermal aplasia–sclerocornea syndrome is caused by mutations in the PAX6 gene. This gene provides instructions for making a protein that is involved in the formation of tissues and organs during embryonic development. Mutations in the PAX6 gene disrupt the normal development of the eyes and skin, leading to the characteristic features of this disorder.

Diagnosis

Diagnosis of Microphthalmia–dermal aplasia–sclerocornea syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the PAX6 gene.

Treatment

Treatment of Microphthalmia–dermal aplasia–sclerocornea syndrome is symptomatic and supportive. It may include surgery to correct eye abnormalities, skin grafts for areas of dermal aplasia, and other interventions as needed.

See also

• Genetic disorder
• Eye abnormalities
• Skin abnormalities

Microphthalmia–dermal aplasia–sclerocornea syndrome Resources
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