Ocular Manifestations of the Meckel Syndrome

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

Research output: Contribution to journalArticle

23 Citations (Scopus)

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 - Jan 1 1972
Externally publishedYes

Fingerprint

Eye Manifestations
Retinal Dysplasia
Anophthalmos
Eye Abnormalities
Aniridia
Microphthalmos
Optic Nerve
Karyotype
Cataract
Meckel syndrome type 1

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ocular Manifestations of the Meckel Syndrome. / Macrae, Douglas W.; Howard, Rufus O.; Albert, Daniel; Hsia, Yujen E.

In: Archives of Ophthalmology, Vol. 88, No. 1, 01.01.1972, p. 106-113.

Research output: Contribution to journalArticle

Macrae, Douglas W. ; Howard, Rufus O. ; Albert, Daniel ; Hsia, Yujen E. / Ocular Manifestations of the Meckel Syndrome. In: Archives of Ophthalmology. 1972 ; Vol. 88, No. 1. pp. 106-113.
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