Genetics of microphthalmos

Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580.


This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Coloboma / genetics*
  • Cornea / abnormalities
  • Eye Abnormalities*
  • Eye Diseases / complications
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Hallermann's Syndrome / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Microcephaly / complications
  • Microcephaly / genetics
  • Microphthalmos / complications
  • Microphthalmos / genetics*
  • Middle Aged
  • Pedigree
  • Syndrome