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
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells
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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
Retinal dysfunction characterizes subtypes of dominant optic atrophy
Sign Up to like & getrecommendations! Published in 2018 at "Acta Ophthalmologica"
DOI: 10.1111/aos.13557
Abstract: To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. read more here.
Keywords: dominant optic; characterizes subtypes; optic atrophy; retinal dysfunction ... See more keywords
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0641-1
Abstract: BackgroundHeterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to… read more here.
Keywords: dominant optic; opa1 mutations; expanding clinical; atrophy expanding ... See more keywords
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
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DOI: 10.3390/genes13071202
Abstract: Dominant Optic Atrophy (DOA) is one of the most common inherited mitochondrial diseases, leading to blindness. It is caused by the chronic degeneration of the retinal ganglion cells (RGCs) and their axons forming the optic… read more here.
Keywords: pmpca variants; optic atrophy; next generation; dominant optic ... See more keywords
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Sign Up to like & getrecommendations! Published in 2017 at "Biomedical reports"
DOI: 10.3892/br.2017.987
Abstract: Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability. Although a number of mutations in different genes are now known… read more here.
Keywords: like matrix; dominant optic; optic atrophy; afg3 like ... See more keywords