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GTR Home > Conditions/Phenotypes > Ectopia lentis 1, isolated, autosomal dominant

Ectopia lentis 1, isolated, autosomal dominant

Synonyms
Ectopia Lentis, Isolated

Summary

Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). Genetic Heterogeneity of Isolated Ectopia Lentis An autosomal recessive form of isolated ectopia lentis (ECTOL2; 225100) is caused by mutation in the ADAMTSL4 gene (610113). [from OMIM]

Available tests

92 tests are in the database for this condition.

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Clinical tests (92 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, FBN1
    Summary: fibrillin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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