VSX2-related microphthalmia, anophthalmia, and coloboma is a condition where the eyeball is smaller than usual (microphthalmia) or completely missing (anophthalmia).
People with this condition may also have other eye issues like colobomas, which are missing pieces of eye tissue, or cataracts, a clouding of the eye lens. Colobomas can affect different parts of the eye, like the iris (colored part) or the retina. These eye problems can happen in one or both eyes and might lead to partial or complete vision loss. The condition only affects the eyes and doesn’t impact other parts of the body or a person’s intelligence. To help the facial bones develop correctly, especially the eye socket, kids with VVSX2-related microphthalmia, anophthalmia, and coloboma might use a device. Prosthetic eyes are also used for both facial development and appearance.
This condition is caused by pathogenic (disease-causing) variants in the VSX2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 145 chance to be a carrier.
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Revised November 2023
