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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 ...
Nystagmus as seen in a case of ocular albinism. The cause of pathological nystagmus may be congenital, idiopathic, or secondary to a pre-existing neurological disorder.It also may be induced temporarily by disorientation (such as on roller coaster rides or when a person has been spinning in circles) or by some drugs (alcohol, lidocaine, and other central nervous system depressants, inhalant ...
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 ...
Congenital blindness is a hereditary disease and can be treated by gene therapy. Visual loss in children or infants can occur either at the prenatal stage (during the time of conception or intrauterine period) or postnatal stage (immediately after birth). [3] There are multiple possible causes of congenital blindness.
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 ...
Neuromyelitis optica spectrum disorder. Myasthenia Gravis. The one and a half syndrome is a rare weakness in eye movement affecting both eyes, in which one cannot move laterally at all, and the other can move only in outward direction. More formally, it is characterized by " a conjugate horizontal gaze palsy in one direction and an internuclear ...
Opsoclonus myoclonus syndrome. Opsoclonus myoclonus syndrome ( OMS ), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of unknown cause which appears to be the result of an autoimmune process involving the nervous system. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year.
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.