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Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. [1] [2] Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. [3]
Behr's syndrome is a rare autosomal recessive disorder characterized by early-onset optic atrophy, ataxia, and spasticity. Berk–Tabatznik syndrome is a condition that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare.
The optic tract syndrome is characterized by a contralateral, incongruous homonymous hemianopia, contralateral relative afferent pupillary defect (RAPD), and optic atrophy due to retrograde axonal degeneration. [16] Causes of optic tract lesions are also classified into intrinsic and extrinsic forms.
There are several causes of toxic optic neuropathy. [1] Among these are: ingestion of methanol (wood alcohol), ethylene glycol (automotive antifreeze), disulfiram (used to treat chronic alcoholism), halogenated hydroquinolones (amebicidal medications), ethambutol and isoniazid (tuberculosis treatment), and antibiotics such as linezolid and chloramphenicol as well as chloroquine and the related ...
On examination the pupillary responses may be sluggish to light. One would not expect to find an afferent pupillary defect because optic neuropathies are often bilateral and symmetric. [2] The optic disc may appear mildly hyperemic with small splinter hemorrhages on or around the disc, or may appear nearly normal. Optic atrophy typically ...
As the initial swelling of the optic disc subsides, optic atrophy generally develops within one to two months after onset. A retrospective diagnosis of optic atrophy due to previous ischemic optic neuropathy is often possible when a small optic disc is detected in both the affected and the opposite eye, and when other tests for potential causes ...
Autosomal dominant optic atrophy can present clinically as an isolated bilateral optic neuropathy (non-syndromic form) or rather as a complicated phenotype with extra-ocular signs (syndromic form). Dominant optic atrophy usually affects both eyes roughly symmetrically in a slowly progressive pattern of vision loss beginning in childhood and is ...
Ischemic optic neuropathy (ION) is the loss of structure and function of a portion of the optic nerve due to obstruction of blood flow to the nerve (i.e. ischemia).Ischemic forms of optic neuropathy are typically classified as either anterior ischemic optic neuropathy or posterior ischemic optic neuropathy according to the part of the optic nerve that is affected.
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