GTR Home > Conditions/Phenotypes > Ectopia lentis, isolated autosomal recessive


Excerpted from the GeneReview: ADAMTSL4-Related Eye Disorders
The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as ‘autosomal recessive isolated ectopia lentis’ and ‘ectopia lentis et pupillae’ as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens; no systemic abnormalities are observed. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual.

Available tests

19 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ADAMTSL-4, ECTOL2, TSRC1, ADAMTSL4
    Summary: ADAMTS like 4

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