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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 is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often ...
Patients with the 14484/ND6 mutation are most likely to have visual recovery. [8] Dominant optic atrophy is an autosomal dominant disease caused by a defect in the nuclear gene OPA1. A slowly progressive optic neuropathy, dominant optic atrophy, usually presents in the first decade of life and is bilaterally symmetrical.
Non-arteritic anterior ischemic optic neuropathy (NAION) is a medical condition characterized by loss of vision caused by damage to the optic nerve as a result of ischemia, or insufficient blood supply. The key symptom of NAION is optic disc swelling, which typically resolves within 2 months, but often leads to optic atrophy. The likelihood of ...
Treatment is dependent upon diagnosis and the stage at which the diagnosis is secured. For toxic and nutritional optic neuropathies, the most important course is to remove the offending agent if possible and to replace the missing nutritional elements, orally, intramuscularly, or intravenously. If treatment is delayed, the injury may be ...
All patients described have suffered from developmental delay, intellectual disability (intelligence quotient range 48–74) and decreased visual acuity. Ocular abnormalities include small discs, pale discs, disc excavation, strabismus and latent nystagmus. Other features of this condition are somewhat variable and include: Facial indicators
This optic nerve must penetrate through the wall of the eye, and the hole to accommodate this is usually 20-30% larger than the nerve diameter. In some patients the optic nerve is nearly as large as the opening in the back of the eye, and the optic disc appears "crowded" when seen by ophthalmoscopy. A crowded disc is also referred to as a "disc ...
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Autopsy on one of the sister with Behr Syndrome revealed central atrophy of the optic nerves and total disarray of the normal laminar pattern of the lateral geniculate nucleus, dropout of neurons, and gliosis. There were numerous axonal spheroids in the neuropil. Similar spheroids with cell loss and gliosis were also observed in other thalamic ...
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