Albinism refers to a heterogeneous group of hypopigmentation disorders that share an absolute or relative inherited deficiency of the pigment melanin that leads to characteristic changes in the skin, hair,…

Overview Choroidal melanoma is the most common primary malignant intraocular tumor with an annual incidence in the USA of 0.8 cases per 100 000 population. Once metastasis becomes clinically apparent,…

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…

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…

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…

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…

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…

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…

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…

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….