Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations (original) (raw)
AI-generated Abstract
Hereditary optic neuropathy encompasses a diverse group of genetic disorders affecting retinal ganglion cells and the optic nerve. The most prevalent conditions include autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic atrophy (LHON). A significant proportion of ADOA cases are associated with mutations in the OPA1 gene, which plays a critical role in mitochondrial function. This study screened 980 cases of suspected hereditary optic neuropathy and identified 77 novel OPA1 mutations, contributing valuable insights into the genetic landscape of these disorders.
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