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Recently, two groups reported that several OPA1 mutations cause "optic atrophy plus syndrome".
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COL4A1 and COL4A2 mutations cause ocular defects including anterior segment dysgenesis (ASD) and optic nerve hypoplasia (ONH) in patients and mice.
Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration.
Mutations of GPR143 can affect pigment production in the eye and cause optic changes associated with albinism (35, 59) (vide supra).
At least 80 mutations cause transthyretin diseases, Dr. Kelly said.
In fact, most lethal mutations cause only very rare diseases.
Conversely, human GLIS3 mutations cause neonatal diabetes.
The episodic vascular insufficiency may compromise optic nerve perfusion and oxygenation and subsequently cause optic neuropathy [ 12].
For mtDNA, point mutations causing Leber's hereditary optic neuropathy (LHON, m.11778G>A, m.3460G>A and m.14484T>C) were found in ~40% of patients affected by mitochondrial disease (Man et al, 2003; Gorman et al, 2015c).
One of the earlier studies on mutations causing malignant neoplasms in Drosophila examined 12 recessive lethal mutations affecting the optic neuroblasts and ganglion mother cells in the larval brain, the imaginal discs, and the hematopoietic organs [ 13].
If so, could arterial exclusion have caused optic ischemia?
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