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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]
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 ...
The mother was the most affected: her phenotype consisted of additional features her son did not suffer from, including severe vision impairment and bilateral optic nerve atrophy. [ 32 ] The fourth case report was written by Hogewind et al. , whose patients were three affected members of a two-generation Dutch family (two brothers and their ...
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.
After several years, the occurring optic nerve atrophy results in artifactual looping of the axons into the atrophic nerve. This looping was initially described by Wilbrand, who studied subjects with severe optic nerve atrophy after enucleation, and who then appears to have exaggerated the importance of this looping in later drawings. [5]
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as ...
Neuromyelitis optica (NMO) is a particular disease within the NMOSD spectrum. It is characterised by optic neuritis and longitudinally extensive myelitis. In more than 80% of NMO cases, the cause is immunoglobulin G autoantibodies to aquaporin 4 , the most abundant water channel protein in the central nervous system. [5] [1] [4]