Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23658
Abstract: Mitochondrial dynamics and quality control are crucial for neuronal survival and their perturbation is a major cause of neurodegeneration. m‐AAA complex is an ATP‐dependent metalloprotease located in the inner mitochondrial membrane and involved in protein… read more here.
Keywords: opa1 processing; mitochondrial network; optic atrophy; parkinsonism ... See more keywords
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00671-1
Abstract: Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise CII… read more here.
Keywords: bilateral optic; childhood onset; optic atrophy; sdha gene ... See more keywords
Bilateral primary optic neuropathy as the presenting manifestation of tuberculosis in an immunocompetent patient
Sign Up to like & getrecommendations! Published in 2019 at "IDCases"
DOI: 10.1016/j.idcr.2019.e00579
Abstract: Vision impairment is one of the devastating complications of central nervous system tuberculosis (CNS TB). Optic atrophy is a sequelae of various forms of CNS TB which, ultimately, is responsible for vision impairment. It is… read more here.
Keywords: primary optic; optic atrophy; tuberculosis; bilateral primary ... See more keywords
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Sign Up to like & getrecommendations! Published in 2021 at "Mitochondrion"
DOI: 10.1016/j.mito.2020.12.014
Abstract: Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an extremely rare autosomal recessive mitochondrial disease caused by biallelic mutations in MECR. Using whole-exome sequencing, we identified a novel homozygous MECR mutation (c.910G>T, p.Asp304Tyr)… read more here.
Keywords: onset dystonia; childhood onset; ganglia abnormalities; optic atrophy ... See more keywords
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches.
Sign Up to like & getrecommendations! Published in 2017 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2017.06.001
Abstract: Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the… read more here.
Keywords: dominant optic; optic atrophy; hereditary optic; leber hereditary ... See more keywords
Progressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-73353-0
Abstract: Optic atrophy resulting from retinal ganglion cell (RGC) degeneration is a prominent ocular manifestation of mitochondrial dysfunction. Although transgenic mice lacking the mitochondrial complex I accessory subunit NDUFS4 develop early-onset optic atrophy, severe systemic mitochondrial… read more here.
Keywords: retinal ganglion; atrophy; optic atrophy; ganglion cell ... See more keywords
Pott’s Spine with Tubercular Meningitis and Primary Optic Atrophy: An Enigma with a Rare Cautionary Tale
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Neural Systems"
DOI: 10.1055/s-0039-3400345
Abstract: Tuberculosis of spine, known as Pott’s spine, is a significant health risk. Misdiagnosis or delayed diagnosis with lack of timely interventions lead to serious neurological complications and is associated with morbidity and mortality. We present… read more here.
Keywords: primary optic; pott spine; optic atrophy; tubercular meningitis ... See more keywords
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1350723
Abstract: ABSTRACT Background: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with… read more here.
Keywords: pathogenic variants; variants aars2; optic atrophy; gene ... See more keywords
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells
Sign Up to like & getrecommendations! Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac128
Abstract: Abstract 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 nerve degeneration and progressive bilateral central vision loss. More… read more here.
Keywords: ipsc; optic atrophy; opa1 variants; autosomal dominant ... See more keywords
Autosomal Dominant Optic Atrophy
Sign Up to like & getrecommendations! Published in 2019 at "Neuro-Ophthalmology"
DOI: 10.1093/med/9780190603953.003.0006
Abstract: There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral… read more here.
Keywords: autosomal dominant; optic atrophy; ophthalmology; dominant optic ... See more keywords
Acupuncture treatment for optic atrophy
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000016879
Abstract: Abstract Background: Optic atrophy (OPA) is a very tricky disorder. Presently, no effective management is available for this condition. Previous studies have reported that acupuncture may be effective for the treatment of OPA. However, its… read more here.
Keywords: literature; medicine; treatment; acupuncture treatment ... See more keywords