Ophthalmic genetics/inherited eye disease.
OBJECTIVE
Genetic diseases of the eye and involving the eye continue as a leading cause of blindness in children and adults.


RESULTS
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.


CONCLUSIONS
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.
D000417:Albinism / Q000473:pathology; D004479:Ectopia Lentis / Q000175:diagnosis / Q000235:genetics; D005124:Eye Abnormalities / Q000473:pathology; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000175:diagnosis
D000071837:Fibrillins; D008840:Microfilament Proteins