Optic Atrophy/Optic Neuropathy
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Jillian (known to many as “JuJu”) has inherited Optic Atrophy/Optic Neuropathy from her paternal side. This condition, also known as autosomal dominant optic atrophy (ADOA)-plus syndrome, involves vision loss, weakness in the muscles that control eye movement (progressive external ophthalmoplegia), difficulty with balance and coordination (ataxia), hearing loss, disturbances in the nerves used for muscle movement and sensation (motor and sensory neuropathy), and muscle weakness (myopathy).
In most cases, this mutation replaces the protein building block (amino acid) arginine with the amino acid histidine at position 445 in the OPA1 protein (written as Arg445His or R445H). It is unclear why the R445H mutation causes other features in addition to vision loss in affected individuals. There is no cure and we are working to fund research.
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