Add to ORKGAn autosomal-recessive syndrome characterized by severe optic atrophy with onset of visual loss in infancy, progressive hearing loss resulting in severe deafness, and progressive spastic quadriplegia beginning in infancy with progressive mental deterioration and death in childhood has been described by several authors. The common denominator in all these patients is a selective, systematized degeneration of the optic, cochlear, dentate, and medial lemniscal systems. The basal ganglia are unaffected in this condition. The diagnosis is made clinically because there are no pathognomonic histochemical, cytochemical, or electron microscopic characteristics found on brain biopsy
Optic atrophy describes a group of diseases of retinal ganglion cells and axons that eventually lead...
Patients with chiasmal syndromes may or may not have ophthalmoscopically apparent nerve fiber layer ...
none2noOptic nerve and retinal involvement are a frequent finding in many neurodegenerative disorder...
In 1974, Konigsmark et al. described six individuals in four generations who had congenital severe d...
Treft et al. described a syndrome affecting 23 members of five generations of a Utahfamily character...
Rosenberg and Chutorian reported the occurrence of progressive optic atrophy, sensorineural deafness...
In this syndrome, described by Sylvester in 1958, a father and his six children were found to have b...
This form of optic atrophy is present at birth or develops at an early age and is usually discovered...
Optic atrophy is not a disease. It is a nonspecific morphologic end point of disease (any disease) t...
Jensen described a 3-year-old boy and his two maternal uncles with a syndrome characterized by sever...
The optic nerve axons arise from the ganglion cells located in the retina. Hence damage to such axon...
In 1999, Pomerantz and Lessell described a unique family in which all three siblings of one generati...
In 1909, Behr described a syndrome of heredofamilial optic atrophy beginning in early childhood and ...
When optic atrophy is complete, it is often impossible to determine its etiology solely from its app...
Treft et al. (1984) previously described an autosomal dominant disorder in 23 subjects of a 96-membe...
Optic atrophy describes a group of diseases of retinal ganglion cells and axons that eventually lead...
Patients with chiasmal syndromes may or may not have ophthalmoscopically apparent nerve fiber layer ...
none2noOptic nerve and retinal involvement are a frequent finding in many neurodegenerative disorder...
In 1974, Konigsmark et al. described six individuals in four generations who had congenital severe d...
Treft et al. described a syndrome affecting 23 members of five generations of a Utahfamily character...
Rosenberg and Chutorian reported the occurrence of progressive optic atrophy, sensorineural deafness...
In this syndrome, described by Sylvester in 1958, a father and his six children were found to have b...
This form of optic atrophy is present at birth or develops at an early age and is usually discovered...
Optic atrophy is not a disease. It is a nonspecific morphologic end point of disease (any disease) t...
Jensen described a 3-year-old boy and his two maternal uncles with a syndrome characterized by sever...
The optic nerve axons arise from the ganglion cells located in the retina. Hence damage to such axon...
In 1999, Pomerantz and Lessell described a unique family in which all three siblings of one generati...
In 1909, Behr described a syndrome of heredofamilial optic atrophy beginning in early childhood and ...
When optic atrophy is complete, it is often impossible to determine its etiology solely from its app...
Treft et al. (1984) previously described an autosomal dominant disorder in 23 subjects of a 96-membe...
Optic atrophy describes a group of diseases of retinal ganglion cells and axons that eventually lead...
Patients with chiasmal syndromes may or may not have ophthalmoscopically apparent nerve fiber layer ...
none2noOptic nerve and retinal involvement are a frequent finding in many neurodegenerative disorder...