Optic atrophy is a genetic disease caused by a mutation associated with the OPA1 gene. The OPA1 gene is responsible for the production of the OPA1 protein [2]. This protein can be found within and is suited for maintaining the structure of mitochondria. The mutation misshapes the mitochondria and affects the energy-supplying function [5]. Cells that have high energy demands such as the retinal ganglion cells, found within optic nerves, will lead to apoptosis (cell death) [4]. As the retinal ganglion cells die, it becomes impossible for optic nerves to transmit visual information, and eventually cause optic atrophy [4].
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Fig 1. Depiction of the inner retina of the eye. The red highlighted portion is retinal ganglion cells, also referred to as RGCs.
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The OPA1 gene undergoes autosomal dominant inheritance, which means this gene can be passed down to children from one of the parents [7]. In most cases, individuals obtain this genetic disease from their parents, but it could also happen due to new mutations in individuals with no family history of this disease [8]. Optic atrophy type 1 is not contagious, but some conditions such as syphilis, measles, tuberculosis, chickenpox, and severe eye injuries can cause the disease as well [8].
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Fig 6. Autosomal dominant inheritance. Blue color indicates mutated gene and affected parent/children.
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