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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 ...
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.
Paul Kjer is a Danish ophthalmologist who studied a condition in nineteen families that was characterized by infantile optic atrophy along with a dominant inheritance mode. In 1959, the condition was named Kjer's optic neuropathy in his honor.
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 ...
A slowly progressive optic neuropathy, dominant optic atrophy, usually presents in the first decade of life and is bilaterally symmetrical. Examination of these patients shows loss of visual acuity, temporal pallor of the optic discs, centrocecal scotomas with peripheral sparing, and subtle impairments in color vision.
A visual field test can differentiate between whether the reduced visual acuity is centered on the optic nerve or the fundus. Once a neurological problem has, therefore, been ruled out, the disorder's reduced visual acuity without visible fundus abnormalities may be misdiagnosed as optic neuritis, dominant optic atrophy, amblyopia, or ...
It is characterized by optic atrophy followed shortly by loss of hearing and peripheral neuropathy. Onset of the disease occurred in early childhood, as opposed to the later onset of similar diseases. Optic atrophy occurs in the first year and the following symptoms show up before thirteen years. [1]
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 ...