Ocular Manifestations of the Meckel Syndrome

Douglas W. Macrae, Rufus O. Howard, Daniel M. Albert, Yujen E. Hsia

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

The Meckel syndrome is a genetically determined (autosomal recessive) disease with major developmental abnormalities incompatible with life. The ocular manifestations include cryptophthalmos, clinical anophthalmos, microphthalmos, sclerocornea, microcornea, abnormal iridocorneal angle, partial aniridia, cataract, persistent tunica vasculosa lentis, retinal dysplasia, posterior staphyloma, and hypoplasia of the optic nerve. The ocular abnormalities are very similar to those of the 13-15 trisomy syndrome, but the chromosome karyotype is normal in the Meckel syndrome.

Original languageEnglish (US)
Pages (from-to)106-113
Number of pages8
JournalArchives of ophthalmology
Volume88
Issue number1
DOIs
StatePublished - Jul 1972

Keywords

  • Meckel syndrome
  • aniridia
  • chamber angle anomaly
  • microphthalmos
  • optic hypoplasia
  • recessive inheritance
  • retinal dysplasia
  • sclerocornea

ASJC Scopus subject areas

  • Ophthalmology

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