ReviewJournal of inherited metabolic disease2003
A review of primary hereditary optic neuropathies.
Review in Journal of inherited metabolic disease, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 33 citations in OpenAlex.
- Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells.Stem cells translational medicine · 2014Trial
- Altered endothelial mitochondrial Opa1-related fusion in mouse accelerates age-associated vascular and kidney damage.Physiological reports · 2025Article
- Altered Mitochondrial Opa1-Related Fusion in Mouse Promotes Endothelial Cell Dysfunction and Atherosclerosis.Antioxidants (Basel, Switzerland) · 2022Article
- Mitochondrial dynamic changes in health and genetic diseases.Molecular biology reports · 2014Review
- Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2013Article
- Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.Journal of medical genetics · 2010Article
- Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.Cellular and molecular life sciences : CMLS · 2010Article
- Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.Molecular vision · 2010Article
- Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Article
- The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment.PLoS genetics · 2008Article
- Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.Journal of medical genetics · 2006Article
- The eye as a window to inborn errors of metabolism.Journal of inherited metabolic disease · 2003Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The primary inherited optic neuropathies are a heterogeneous group of disorders that result in loss of retinal ganglion cells, leading to the clinical appearance of optic atrophy. They affect between 1:10,000 to 1:50,000 people. The main clinical features are a reduction in visual acuity, colour vision abnormalities, centro-caecal visual field defects and pallor of the optic nerve head. Electrophysiological testing shows a normal flash electroretinogram, absent or delayed pattern visually evoked potentials suggestive of a conduction deficit and N95 waveform reduction on the pattern electroretinogram, consistent with a primary ganglion cell pathology. The primary inherited optic neuropathies may be sporadic or familial. The mode of inheritance may be autosomal dominant, autosomal recessive, X-linked recessive or mitochondrial. Within each of these groups, the phenotypic characteristics vary in such features as the mode and age of onset, the severity of the visual loss, the colour deficit and the overall prognosis. A number of different genes (most as yet unidentified) in both nuclear and mitochondrial genomes, underlie these disorders. The elucidation of the role of the encoded proteins will improve our understanding of basic mechanisms of ganglion cell development, physiology and metabolism and further our understanding of the pathophysiology of optic nerve disease. It will also improve diagnosis, counselling and management of patients, and eventually lead to the development of new therapeutic modalities.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.