Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …

Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative
phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many …

Dominant optic atrophy is one of the leading causes of childhood blindness. Around 60–
80% of cases are caused by mutations of the gene that encodes optic atrophy protein 1 …

Autosomal Dominant Optic Atrophy (ADOA), a disease that causes blindness and other
neurological disorders, is linked to OPA1 mutations. OPA1, dependent on its GTPase and …

High throughput sequencing technologies have revolutionized the identification of mutations
responsible for a diverse set of Mendelian disorders, including inherited retinal disorders …

Objective To improve the genetic diagnosis of dominant optic atrophy (DOA), the most
frequently inherited optic nerve disease, and infer genotype-phenotype correlations …

Inner mitochondrial membrane fusion and cristae shape depend on optic atrophy protein 1,
OPA1. Mutations in OPA1 lead to autosomal dominant optic atrophy (ADOA), an important …

Optic neuritis (ON) is an inflammatory condition affecting the optic nerve, leading to vision
impairment and potential vision loss. This manuscript aims to provide a comprehensive …

The increasing application of next generation sequencing approaches to the analysis of
human exome and whole genome data has enabled the identification of novel variants and …

Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy,
characterized by the preferential loss of retinal ganglion cells (RGCs), resulting in optic …