The eye and the chromosome

Marilyn Baird Mets, Irene H. Maumenee

Research output: Contribution to journalArticle

Abstract

The first linkage of disease traits on the human X-chromosome was reported in 1937, and the first assignment of a human disease to an autosome was made 26 years later in 1963. Now, after only 19 years, there are at least 338 assignments to loci on the human chromosome map. This amazing expansion of information extends to eye diseases. In this review, basic mechanisms of mutation are discussed, and the basic methodologies used for gene assignment are explained. All of the eye-related, definite, autosomal assignments are presented. The diseases that have regional assignments on the X-chromosome are discussed, and the remaining X-linked eye diseases are listed in table form.

Original languageEnglish (US)
Pages (from-to)20-32
Number of pages13
JournalSurvey of Ophthalmology
Volume28
Issue number1
DOIs
StatePublished - 1983

Fingerprint

Eye Diseases
Chromosomes
Chromosomes, Human, X
Human Chromosomes
X Chromosome
Mutation
Genes
isofenphos

Keywords

  • chromosomes
  • gene map
  • genetic eye diseases
  • heredity
  • linkage
  • metabolic disorders

ASJC Scopus subject areas

  • Ophthalmology

Cite this

The eye and the chromosome. / Mets, Marilyn Baird; Maumenee, Irene H.

In: Survey of Ophthalmology, Vol. 28, No. 1, 1983, p. 20-32.

Research output: Contribution to journalArticle

Mets, MB & Maumenee, IH 1983, 'The eye and the chromosome', Survey of Ophthalmology, vol. 28, no. 1, pp. 20-32. https://doi.org/10.1016/0039-6257(83)90175-3
Mets, Marilyn Baird ; Maumenee, Irene H. / The eye and the chromosome. In: Survey of Ophthalmology. 1983 ; Vol. 28, No. 1. pp. 20-32.
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