Ophthalmic genetics/inherited eye disease

Curr Opin Ophthalmol. 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011.


Purpose of review: Genetic diseases of the eye and involving the eye continue as a leading cause of blindness in children and adults.

Recent findings: Most genetic ocular disorders are not yet treatable and/or are without curative therapies because of our limited understanding of pathogenesis, and the need for well-designed and fully implemented animal model or human clinical trial testing of therapeutic methods.

Summary: Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, albinism, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and familial exudative vitreoretinopathy.

Publication types

  • Review

MeSH terms

  • Albinism / pathology
  • Ectopia Lentis / diagnosis
  • Ectopia Lentis / genetics
  • Eye Abnormalities / pathology
  • Eye Diseases, Hereditary* / diagnosis
  • Eye Diseases, Hereditary* / genetics
  • Eye Diseases, Hereditary* / pathology
  • Fibrillins
  • Humans
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / genetics
  • Microfilament Proteins / genetics
  • Mutation
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / pathology
  • Neurofibromatosis 2 / diagnosis


  • Fibrillins
  • Microfilament Proteins