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Features include always present findings: Photophobia, Visual impairment, Damage to the optic nerve (optic atrophy), and Red-green dyschromatopsia. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Nystagmus, Retinal degeneration, Visual impairment |
Biomarker and diagnostic research for optic atrophy 6 has been reported in the published literature.
Phenotype severity distribution: 4 always present features.
No clinical trials have been registered for optic atrophy 6.
295 publications have been identified in PubMed for optic atrophy 6. Kisho has analyzed 150 by research type. Research spans Basic Science / Preclinical (30%), Case Report / Case Series (20%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 45 | 30% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Damage to the optic nerve (optic atrophy) |
Patient case studies
30 |
20% |
Disease patterns and progression | 25 | 17% |
Testing and diagnosis research | 14 | 9% |
Clinical study results | 14 | 9% |
Research summaries | 12 | 8% |
New treatment approaches | 9 | 6% |
Other research | 1 | 1% |
McNeely BJ (2026). [PMID: 41870390](https://pubmed.ncbi.nlm.nih.gov/41870390/). *J Neuroophthalmol*. [Diagnostic / Biomarker]
Eppenberger LS (2026). [PMID: 41140911](https://pubmed.ncbi.nlm.nih.gov/41140911/). *Ophthalmol Sci*. [Epidemiology / Natural History]
Zhu J (2026). [PMID: 41863086](https://pubmed.ncbi.nlm.nih.gov/41863086/). *J Diabetes*. [Basic Science / Preclinical]
Bollo L (2026). [PMID: 41617221](https://pubmed.ncbi.nlm.nih.gov/41617221/). *Mult Scler*. [Diagnostic / Biomarker]
Rohayem J (2026). [PMID: 40297921](https://pubmed.ncbi.nlm.nih.gov/40297921/). *Andrology*. [Other]
Ding XS (2026). [PMID: 41570770](https://pubmed.ncbi.nlm.nih.gov/41570770/). *Redox biology*. [Basic Science / Preclinical]
Khanani AM (2026). [PMID: 41407269](https://pubmed.ncbi.nlm.nih.gov/41407269/). *Ophthalmology*. [Clinical Trial Publication]
Pajareeyapong P (2026). [PMID: 41561141](https://pubmed.ncbi.nlm.nih.gov/41561141/). *Neuroimage Rep*. [Basic Science / Preclinical]
Küchlin S (2026). [PMID: 42004010](https://pubmed.ncbi.nlm.nih.gov/42004010/). *Brain Commun*. [Basic Science / Preclinical]
Wipprecht L (2026). [PMID: 41108385](https://pubmed.ncbi.nlm.nih.gov/41108385/). *Graefes Arch Clin Exp Ophthalmol*. [Basic Science / Preclinical]