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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Changes in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the FBN1 gene are more common among people with isolated ectopia lentis than variants in the ADAMTSL4 gene. These genes provide instructions for making proteins that are necessary for the formation of threadlike filaments called microfibrils. Microfibrils provide support to many tissues. Within the eyes, microfibrils form small bundles called zonular fibers that hold the lenses of the eyes in their central position.

Pathogenic variants in the FBN1 or ADAMTSL4 gene cause cells to make a version of the protein that does not function properly. This can decrease the number of microfibrils or result in the formation of altered microfibrils. Without enough functional microfibrils to form zonular fibers, the lens becomes ectopic. The ectopic lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Isolated ectopia lentis?"},{"bodyHtml":"

Vision problems are common in people with isolated ectopia lentis. These problems often include nearsightedness (myopia) and double vision (diplopia). The lens or the structure that covers the front of the eye (the cornea) can have an irregular curvature, which causes blurred vision (astigmatism). Affected individuals may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than other adults. A small number of people with isolated ectopia lentis experience tearing in the lining at the back of the eye (retinal detachment), which can lead to further vision problems and blindness.

In individuals with isolated ectopia lentis, each eye can be affected differently. In addition, the eye problems vary among affected individuals, even those within the same family.

Ectopia lentis is classified as isolated when it occurs without signs and symptoms that affect other body systems. Ectopia lentis can also be classified as syndromic when it is part of a syndrome that affects multiple parts of the body. Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome.

Ectopia lentis can also occur in individuals who experience injury or trauma to the head or eye. Traumatic ectopia lentis is not genetic, can occur at any age, and is the most common cause of ectopia lentis.

Source: MedlinePlus Genetics

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