Neurofibromatosis

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Neurofibromatosis

Neurofibromatosis type 1 (NF1) is an autosomal-dominant tumor predisposition syndrome in which affected children are prone to the development of low-grade astrocytic (glial) neoplasms along the optic pathway (optic pathway…

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Phthisis bulbi

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Phthisis bulbi

Clinical background Key symptoms and signs Phthisis bulbi represents an ocular end-stage disease of various causes and is defined by atrophy, shrinkage, and disorganization of the eyeball and intraocular contents…

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Pathogenesis of Graves’ ophthalmopathy

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Pathogenesis of Graves’ ophthalmopathy

Clinical background Graves’ disease (GD) was named for the Irish physician, Sir Robert James Graves (1797–1853), who first described the triad of hyperthyroidism, goiter, and exophthalmos. Graves’ hyperthyroidism is caused…

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Genetics of hereditary retinoblastoma

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Genetics of hereditary retinoblastoma

Clinical background Epidemiology Retinoblastoma is a tumor of the developing retina. It is the most common malignant ocular tumor in childhood, affecting approximately 1 in 20 000 live births. In…

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Myopia

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Myopia

Definition and prevalence Myopia is the most common human eye disorder in the world. For this refractive state, the retina is located behind the focal plane so that a concave…

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Vasculogenic mimicry

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Vasculogenic mimicry

Overview and clinical context By the mid-1980s, many uveal melanoma patients were electing treatment by vision-sparing radiation therapy, avoiding surgical removal of the affected eye (enucleation). The Collaborative Ocular Melanoma…

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Molecular basis of low-penetrance retinoblastoma

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Molecular basis of low-penetrance retinoblastoma

Clinical background Retinoblastoma is the most common intraocular malignancy in children and is the prototype inherited cancer predisposition syndrome. About 60% of new patients exhibit unilateral ocular involvement with familial…

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Uveal melanoma

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Uveal melanoma

Clinical background Uveal melanoma is a malignant neoplasm that arises from neuroectodermal melanocytes within the choroid, ciliary body, or iris, and it is the most common primary malignant intraocular neoplasm….

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Toxic optic nerve neuropathies

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Toxic optic nerve neuropathies

The toxic optic neuropathies (TON) are caused by a widely varied group of insults that may include chemicals, drugs, nutritional defects, and vaccines ( Box 46.1 ). The goal of…

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Nystagmus

Aug 26, 2019 by in OPHTHALMOLOGY Comments Off on Nystagmus

Introduction Nystagmus is defined as a rhythmic oscillation of the eyes. The term “nystagmus” is a transliteration of a Greek word for “drowsy head-nodding movements,” since the jerky eye movements…

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