Terri L Young1. 1. Children's Hospital of Philadelphia, Pennsylvania 19104, USA. youngt@email.chop.edu
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.
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.