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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.
The morning glory disc anomaly (MGDA) is a congenital deformity resulting from failure of the optic nerve to completely form in utero. [1] The term was coined in 1970 by Kindler, noting a resemblance of the malformed optic nerve to the morning glory flower. [2] The condition is usually unilateral. [3]
Hypertropia is a condition of misalignment of the eyes (), whereby the visual axis of one eye is higher than the fellow fixating eye. Hypotropia is the similar condition, focus being on the eye with the visual axis lower than the fellow fixating eye.
The optic nerve can be damaged when exposed to direct or indirect injury. Direct optic nerve injuries are caused by trauma to the head or orbit that crosses normal tissue planes and disrupts the anatomy and function of the optic nerve; e.g., a bullet or forceps that physically injures the optic nerve.
This disease is a heterogenous group of inherited neuropathies, stemming from a MFN2 mutation, in which both motor and sensory nerves are affected, resulting in distal limb weakness, sensory loss, decreased deep tendon reflexes, and foot deformities. Affected individuals develop progressive optic nerve dysfunction starting later in childhood. [21]
NAION is the second most common optic nerve disease in the U.S., occurring in up to 10 out of 100,000 people, according to the American Academy of Ophthalmology, and it’s one of the most common ...
Congenital fourth nerve palsy is a condition present at birth characterized by a vertical misalignment of the eyes due to a weakness or paralysis of the superior oblique muscle. Other names for fourth nerve palsy include superior oblique palsy and trochlear nerve palsy. [ 1 ]
The RGCs axons form the optic nerve. Therefore, the disease can be considered of the central nervous system. [2] Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. [3] Although dominant optic atrophy ...