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A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
Biomarker and diagnostic research for isolated optic nerve aplasia has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for isolated optic nerve aplasia.
31 publications have been identified in PubMed for isolated optic nerve aplasia. Research spans Case Report / Case Series (35%), Diagnostic / Biomarker (19%), and Review / Meta-Analysis (16%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 35% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:25 PM UTC
European rare disease database
6 |
19% |
Research summaries | 5 | 16% |
Disease patterns and progression | 4 | 13% |
Laboratory research | 3 | 10% |
Other research | 1 | 3% |
Clinical study results | 1 | 3% |
Salman MS (2026). [PMID: 41607206](https://pubmed.ncbi.nlm.nih.gov/41607206/). *Can J Neurol Sci*. [Case Report / Case Series]
Ferrara M (2026). [PMID: 41422860](https://pubmed.ncbi.nlm.nih.gov/41422860/). *Ophthalmol Retina*. [Clinical Trial Publication]
Spaide RF (2026). [PMID: 40924907](https://pubmed.ncbi.nlm.nih.gov/40924907/). *Retina*. [Diagnostic / Biomarker]
Olivieri C (2026). [PMID: 41342353](https://pubmed.ncbi.nlm.nih.gov/41342353/). *J Clin Ultrasound*. [Review / Meta-Analysis]
Fidan DG (2026). [PMID: 41489923](https://pubmed.ncbi.nlm.nih.gov/41489923/). *Ocul Immunol Inflamm*. [Case Report / Case Series]
Cuzzubbo S (2026). [PMID: 41759413](https://pubmed.ncbi.nlm.nih.gov/41759413/). *Eur J Cancer*. [Review / Meta-Analysis]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Wiggins RE (2025). [PMID: 41570856](https://pubmed.ncbi.nlm.nih.gov/41570856/). *J Binocul Vis Ocul Motil*. [Review / Meta-Analysis]
Coletti ML (2025). [PMID: 40228397](https://pubmed.ncbi.nlm.nih.gov/40228397/). *Pediatr Neurol*. [Epidemiology / Natural History]
Brazdziunaite D (2025). [PMID: 40282888](https://pubmed.ncbi.nlm.nih.gov/40282888/). *Medicina (Kaunas)*. [Basic Science / Preclinical]