Variants
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Ectopia lentis et pupillae

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Description

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. 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. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

13

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Genes

External Links

  • OMIM

    225200

  • Orphanet
  • HPO
  • Medgen

    C1644196

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