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Features include always present findings: Central scotoma; and common findings: Abnormal auditory evoked potentials and Mitral valve prolapse. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Damage to the optic nerve (optic atrophy), Visual impairment |
Biomarker and diagnostic research for optic atrophy 8 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 2 common features.
No clinical trials have been registered for optic atrophy 8.
147 publications have been identified in PubMed for optic atrophy 8. Research spans Basic Science / Preclinical (28%), Epidemiology / Natural History (26%), and Case Report / Case Series (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 41 | 28% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 4:27 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
2 |
Mitral regurgitation, Mitral valve prolapse |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Muscles | 1 | Damage to the optic nerve (optic atrophy) |
38 |
26% |
Patient case studies | 31 | 21% |
Testing and diagnosis research | 13 | 9% |
Clinical study results | 11 | 7% |
New treatment approaches | 7 | 5% |
Research summaries | 6 | 4% |
Beaulieu C (2026). [PMID: 41954904](https://pubmed.ncbi.nlm.nih.gov/41954904/). *JAMA Ophthalmol*. [Epidemiology / Natural History]
Zhu J (2026). [PMID: 41863086](https://pubmed.ncbi.nlm.nih.gov/41863086/). *J Diabetes*. [Basic Science / Preclinical]
Wipprecht L (2026). [PMID: 41108385](https://pubmed.ncbi.nlm.nih.gov/41108385/). *Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie*. [Clinical Trial Publication]
AlZaid A (2026). [PMID: 41807743](https://pubmed.ncbi.nlm.nih.gov/41807743/). *J Ophthalmic Inflamm Infect*. [Diagnostic / Biomarker]
Margoni M (2026). [PMID: 41627519](https://pubmed.ncbi.nlm.nih.gov/41627519/). *J Neurol*. [Epidemiology / Natural History]
Chotikavanich S (2026). [PMID: 41844146](https://pubmed.ncbi.nlm.nih.gov/41844146/). *Clin Exp Optom*. [Case Report / Case Series]
Küchlin S (2026). [PMID: 42004010](https://pubmed.ncbi.nlm.nih.gov/42004010/). *Brain Commun*. [Gene Therapy / Novel Therapeutics]
Morison LD (2026). [PMID: 40379967](https://pubmed.ncbi.nlm.nih.gov/40379967/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]
Watane A (2026). [PMID: 41802213](https://pubmed.ncbi.nlm.nih.gov/41802213/). *Ocul Immunol Inflamm*. [Epidemiology / Natural History]
Kang EY (2026). [PMID: 41706861](https://pubmed.ncbi.nlm.nih.gov/41706861/). *Sci Adv*. [Basic Science / Preclinical]