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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 ...
Infantile esotropia is an ocular condition of early onset in which one or either eye turns inward. It is a specific sub-type of esotropia and has been a subject of much debate amongst ophthalmologists with regard to its naming, diagnostic features, and treatment.
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 ...
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 ...
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.
Cornelia de Lange syndrome. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
Blue baby syndrome can refer to conditions that cause cyanosis, or blueness of the skin, in babies as a result of low oxygen levels in the blood. This term has traditionally been applied to cyanosis as a result of:. [ 1] Cyanotic heart disease, which is a category of congenital heart defect that results in low levels of oxygen in the blood. [ 2]
Zonular cataract and nystagmus, also referred as nystagmus with congenital zonular cataract, is a rare congenital disease associated with Nystagmus and zonular cataract of the eye. Genetics [ edit ] It has been suggested that the disease follows an X-linked pattern of inheritance [2] though studies done on this particular disease are few.