MEDICAL GENETICS TODAY

Research output: Contribution to journalReview article

10 Scopus citations

Abstract

Dislocation of the lens is a characteristic feature of at least 3 heritable systemic disorders: the Marfan syndrome, homocystinuria, and the Weill Marchesani syndrome. An abnormality of the zonules shown both clinically and histologically, is the most likely etiology although the nature of the metabolic defect(s) has not been determined. The morphology of the lens and the direction of dislocation, although not pathognomonic, can be useful in the clinical differentiation of these disorders. Ectopia lentis is also sometimes found in the Ehlers Danlos syndrome, Rieger syndrome, Treacher Collins syndrome, hyperlysinemia, and sulfite oxidase deficiency.

Original languageEnglish (US)
Pages (from-to)113-119
Number of pages7
JournalBirth Defects: Original Article Series
Volume10
Issue number10
StatePublished - Dec 1 1974

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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