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Optic atrophy
- ... gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly worsening vision ... in the OPA3 gene that cause autosomal dominant optic atrophy and cataract occur in one copy of the ...
- ... carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
- ... the OPA1 gene have been found to cause optic atrophy type 1. This condition typically results in vision ... Most of the OPA1 gene mutations that cause optic atrophy type 1 create a premature stop signal in ...
- ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ... that is characterized by progressive hearing loss and optic atrophy leading to vision loss, typically beginning in adolescence. ...
- ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ...
- ... group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. This specific presentation is ...
- ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
- ... rapid eye movements (saccades), and trouble moving the eyes side-to-side (oculomotor apraxia). People with SCAR7 have progressive loss of cells (atrophy) of various parts of the brain, particularly within ...
- ... and the other features sometimes associated with gyrate atrophy. Researchers have suggested that a deficiency of P5C may interfere with the function of the retina, the specialized light-sensitive tissue that lines the back of the eye. It has also been proposed that excess ornithine ...
- ... a disorder characterized by muscle weakness and wasting (atrophy) that worsens slowly over time. Two forms of ... these cells, leading to progressive muscle weakness and atrophy.Studies suggest that mutations in the SMCHD1 gene ...