Ocular manifestations of genetic and developmental diseases

Curr Opin Ophthalmol. 1994 Dec;5(6):72-8. doi: 10.1097/00055735-199412000-00012.


Significant advances were reported this year in our understanding of the association of lens opacities with neurofibromatosis type 2 and the genetics of the aniridia-Wilms' tumor association. The first successful surgical reattachment of detached retinas in patients with incontinentia pigmenti are reported. An important retrospective review of young adults with congenital rubella syndrome implies that the timing of infection during gestation is not related to the incidence of individual ocular conditions. The ophthalmic features of the MELAS syndrome, a mitochondrially inherited encephalomyopathy, are described. Cytogenetic techniques are utilized for the first time to investigate the association between conjunctival and uveal melanomas with the dysplastic nevus syndrome. Familial Duane's syndrome and urogenital abnormalities were associated with a bisatellited marker derived from chromosome 22. Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is reported.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • Dysplastic Nevus Syndrome / diagnosis
  • Eye Diseases / diagnosis*
  • Genetic Diseases, Inborn / diagnosis*
  • Growth Disorders / diagnosis*
  • Humans
  • Incontinentia Pigmenti / diagnosis
  • Incontinentia Pigmenti / surgery
  • MELAS Syndrome / diagnosis
  • Neurofibromatoses / diagnosis
  • Rubella Syndrome, Congenital / diagnosis
  • Rubella Syndrome, Congenital / etiology