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Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss Behr syndrome has an autosomal recessive pattern of inheritance . Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia , pyramidal signs ...
In his research, Hayreh “challenged and changed conventional wisdom” in the field of his research in ophthalmology. [6] His first research project while at the Government Medical College was to confirm the findings by Jules Francois and A. Neetens of the existence of the central artery of the optic nerve; Hayreh found instead that the artery did not exist.
Bosch–Boonstra–Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity. [ 2 ] [ 3 ] [ 4 ] Presentation
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.
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 ...
Behr specialized in the study of neuro-ophthalmological disorders, making contributions in his research involving the pathological processes in papilloedema and tabetic optic atrophy. His name is lent to "Behr's pupil", a slightly dilated pupil in association with an optic tract lesion that is usually associated with a contralateral hemiparesis ...
Although Foster Kennedy syndrome is sometimes called "Kennedy syndrome", [2] it should not be confused with Kennedy disease, or spinal and bulbar muscular atrophy, which is named after William R. Kennedy. Pseudo-Foster Kennedy syndrome is defined as one-sided optic atrophy with papilledema in the other eye but with the absence of a mass. [3]
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) is an autosomal recessive and dominant, progressive neurodegenerative disorder that starts in the first few weeks or months of life. Early symptoms include infantile spasms, hyparrhythmia, and seizures, and optic atrophy.