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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 ...
80207 403187 Ensembl ENSG00000125741 ENSMUSG00000052214 UniProt Q9H6K4 Q505D7 RefSeq (mRNA) NM_001017989 NM_025136 NM_207525 RefSeq (protein) NP_001017989 NP_079412 NP_997408 Location (UCSC) Chr 19: 45.53 – 45.6 Mb Chr 7: 18.96 – 18.99 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene. Clinical ...
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 .
Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy.
Thiselton, Dawn L, Christiane Alexander, Alex Morris, Simon Brooks, Thomas Rosenberg, Hans Eiberg, Birgit Kjer, Poul Kjer, Shomi S Bhattacharya, and Marcela Votruba. 2001. "A Frameshift Mutation in Exon28 of the OPA1 Gene Explains the High Prevalence of Dominant Optic Atrophy in the Danish Population: Evidence for a Founder Effect".
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 ...
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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 ...