Genetic Diseases of the EyeElias I. Traboulsi This authoritative reference work is both comprehensive and practical. It deals with ocular development and malformations, hereditary diseases of the cornea and anterior segment, retina, and optic nerve, inherited systemic diseases that affect the eye, heritable ocular tumors, and general management issues in ophthalmic genetics. It addresses the clinical aspects, molecular genetics and management of inherited disorders as well as more basic topics like ocular embryology and the role of developmental genes, color vision and electrophysiologic testing in retinal disorders. The management of the patient with low vision from an inherited eye disease is also covered. The chapters are heavily referenced and include almost 500 illustrations, many in color, of common and less common conditions. Ophthalmologists, geneticists, pediatricians and internists who care for patients with inherited eye diseases will find this book a valuable addition to their personal library and a handy reference and atlas. The authors and editors of Genetic Diseases of the Eye have tried to present the subject matter in a comprehensive, yet practical manner. The book is divided in sections on ocular development and malformations, hereditary diseases of the cornea and anterior segment, retina, and optic nerve, inherited systemic diseases that affect the eye, heritable ocular tumors, and general management issues in ophthalmic genetics. Some authors address the clinical aspects, molecular genetics and management of the disorders covered in their individual chapters. Others discuss in depth topics such as ocular embryology and the role of developmental genes, color vision, electrophysiologic testing in retinal disorders, or the management of the patient with low vision from an inherited eye disease. The chapters are heavily referenced to assist the readers who are interested in obtaining more details on their topic of interest. More than 500 illustrations, many of which in color, provide the reader with examples of the common and less common conditions covered in the book. Ophthalmologists, geneticists, pediatricians and internists who take care of patients with inherited diseases will find this book a useful addition to their personal library and a handy reference and atlas. |
Contents
Embryology of the Eye and the Role of Developmental Genes | 3 |
Malformations of the Ocular Adnexae | 31 |
Surgical Management of the Patient with Ocular Adnexal Malformations | 45 |
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Common terms and phrases
abnormalities acid affected albinism aniridia anomalies Arch Ophthalmol associated autosomal dominant autosomal recessive bilateral cataracts cells choroid choroideremia chromosome Clin clinical coloboma color vision cone congenital nystagmus corneal dystrophy defects deficiency degeneration deletion diagnosis disease disorders drome drusen Duane syndrome dysplasia epithelial esotropia facial fibers function fundus glaucoma hereditary Hum Genet hypoplasia inherited involved iris keratoconus lens lesions linkage locus macular dystrophy malformations manifestations mapped Marfan syndrome Maumenee membrane ment microphthalmia mitochondrial muscle mutations myopia Nature Genet Neurol normal nystagmus ocular opacities Ophthalmic Ophthalmology optic atrophy optic disc optic nerve patients PAX6 pedigree peripheral peroxisomal phenotype photoreceptor pigment genes posterior protein ptosis rectus refractive region reported result retinal detachment retinal pigment epithelium retinitis pigmentosa retinoschisis segment Strabismus stromal thalmol tients tion tissue Traboulsi trisomy tumor visual acuity vitreous X-linked