Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0235-y
Abstract: Inherited optic neuropathies are a clinically heterogeneous group of disorders that can be caused by variants in both the nuclear and mitochondrial genomes. MtDNA variants (Table 1) show strict maternal inheritance whereas nuclear variants can… read more here.
Keywords: utility gene; clinical utility; gene card; inherited optic ... See more keywords
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
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DOI: 10.3390/genes15020188
Abstract: Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial… read more here.
Keywords: real world; neuro ophthalmology; inherited optic; ophthalmology ... See more keywords
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
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DOI: 10.3390/genes15050530
Abstract: Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent.… read more here.
Keywords: nsun3 mitochondrial; optic neuropathy; inherited optic; mutations nsun3 ... See more keywords