Ophthalmic genetics/inherited eye disease.

Abstract

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.

• Authors: Terri L Young
• Journal: Current opinion in ophthalmology (Curr Opin Ophthalmol) Vol. 14 Issue 5 Pg. 296-303 (Oct 2003) ISSN: 1040-8738 [Print] United States
• PMID: 14502058 (Publication Type: Journal Article, Review)

Chemical References

• Fibrillins
• Microfilament Proteins

Topics

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