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Nystagmus. Nystagmus is a condition of involuntary (or voluntary, in some cases) [1] eye movement. [2] People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. [3] In normal eyesight, while the head rotates about an axis, distant visual images are sustained by ...
Spinocerebellar ataxia type 1. Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cerebellar dysfunction is progressive and permanent.
Horizontal optokinetic nystagmus. The optokinetic reflex ( OKR ), also referred to as the optokinetic response, or optokinetic nystagmus (OKN), is a compensatory reflex that supports visual image stabilization. [ 1] The purpose of OKR is to prevent image blur on the retina that would otherwise occur when an animal moves its head or navigates ...
Leber congenital amaurosis. Leber congenital amaurosis ( LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. [ 2] It affects about 1 in 40,000 newborns. [ 1] LCA was first described by Theodor Leber in the 19th century. [ 3][ 4] It should not be confused with Leber's hereditary optic neuropathy, which ...
Familial multiple lipomatosis is usually diagnosed through a physical exam via palpation, medical history and imaging studies such as ultrasound, CT scan, or magnetic resonance imaging . A CT scan is an imaging method that uses x-rays to create images of cross sections of the body, while an MRI uses powerful magnets and radio waves to create ...
Vestibulocerebellar syndrome. Vestibulocerebellar syndrome, also known as vestibulocerebellar ataxia, is a progressive neurological disorder that causes a variety of medical problems. Initially symptoms present as periodic attacks of abnormal eye movements but may intensify to longer-lasting motor incapacity. The disorder has been localized to ...
Specialty. Dermatology. Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905. [ 2]