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A Leber congenital amaurosis that is caused by a variation in the PRPH2 gene.
Biomarker and diagnostic research for Leber congenital amaurosis 18 has been reported in the published literature.
No clinical trials have been registered for Leber congenital amaurosis 18.
18 publications have been identified in PubMed for Leber congenital amaurosis 18. Research spans Gene Therapy / Novel Therapeutics (33%), Epidemiology / Natural History (28%), and Basic Science / Preclinical (17%).
Research Type | Count | % of Total |
|---|---|---|
New treatment approaches | 6 | 33% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC
Common questions about Leber congenital amaurosis 18
Disease patterns and progression
5 |
28% |
Laboratory research | 3 | 17% |
Testing and diagnosis research | 2 | 11% |
Patient case studies | 1 | 6% |
Clinical study results | 1 | 6% |
Mizobuchi K (2026). [PMID: 42102949](https://pubmed.ncbi.nlm.nih.gov/42102949/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Stephenson KAJ (2026). [PMID: 41679721](https://pubmed.ncbi.nlm.nih.gov/41679721/). *Canadian journal of ophthalmology. Journal canadien d'ophtalmologie*. [Case Report / Case Series]
Singh V (2026). [PMID: 41632426](https://pubmed.ncbi.nlm.nih.gov/41632426/). *Molecular and cellular biochemistry*. [Gene Therapy / Novel Therapeutics]
Hong Y (2026). [PMID: 41242591](https://pubmed.ncbi.nlm.nih.gov/41242591/). *American journal of ophthalmology*. [Diagnostic / Biomarker]
Higgins BE (2025). [PMID: 40149532](https://pubmed.ncbi.nlm.nih.gov/40149532/). *Biomedicines*. [Gene Therapy / Novel Therapeutics]
Bubis E (2025). [PMID: 40528096](https://pubmed.ncbi.nlm.nih.gov/40528096/). *Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie*. [Epidemiology / Natural History]
Zafar A (2025). [PMID: 40141357](https://pubmed.ncbi.nlm.nih.gov/40141357/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Tayyib A (2025). [PMID: 39828244](https://pubmed.ncbi.nlm.nih.gov/39828244/). *Canadian journal of ophthalmology. Journal canadien d'ophtalmologie*. [Gene Therapy / Novel Therapeutics]
Chow DR (2025). [PMID: 41010702](https://pubmed.ncbi.nlm.nih.gov/41010702/). *Journal of clinical medicine*. [Gene Therapy / Novel Therapeutics]
Ashour AM (2025). [PMID: 40978076](https://pubmed.ncbi.nlm.nih.gov/40978076/). *Journal of multidisciplinary healthcare*. [Clinical Trial Publication]