ArticleMolecular vision2017
Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to
Article in Molecular vision, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy.International journal of molecular sciences · 2025Article
- Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy.Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society · 2025Article
- Genetic Polymorphism of Delta Aminolevulinic Acid Dehydratase (International journal of environmental research and public health · 2021Article
- Article
- Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.Human molecular genetics · 2019Article
- A Missense Mutation inJournal of ophthalmology · 2019Article
- Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.Current genetic medicine reports · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
purposeInherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center in the United States. In addition, we compared the clinical features of patients with and without mutations in
methodsClinical data and genetic testing results were reviewed for 74 unrelated, consecutive patients referred with a history of insidious, relatively symmetric, bilateral visual loss secondary to an optic neuropathy. Patients were evaluated for disease-causing variants in
resultsPathogenic DNA variants were found in 25 cases, with the majority (24 patients) located in
conclusionsGenetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in
Indexed as
Identifiers
28848318PMC5561143W2742684236What OpenQuestion holds
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.