Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.
Features include always present findings: Eye poking and Reduced visual acuity; and very common findings: Nystagmus. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Keratoconus, Pigmentary retinopathy, Cataract |
CRB1 encodes crumbs cell polarity complex component 1 (1,406 aa). Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion Highest expression in Brain Cerebellar Hemisphere (4.5 TPM) and Brain Cerebellum (4.5 TPM).
Leber congenital amaurosis 8 is associated with mutations in the CRB1 gene on chromosome 1.
CRB1 is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for CRB1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Leber congenital amaurosis 8 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 1 very common feature, 5 common features.
No clinical trials have been registered for Leber congenital amaurosis 8.
31 publications have been identified in PubMed for Leber congenital amaurosis 8. Research spans Epidemiology / Natural History (45%), Basic Science / Preclinical (26%), and Case Report / Case Series (10%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 14 | 45% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:13 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 8
2 |
Choriocapillaris atrophy, Chorioretinal atrophy |
Laboratory research
8 |
26% |
Patient case studies | 3 | 10% |
Testing and diagnosis research | 2 | 6% |
Other research | 1 | 3% |
Research summaries | 1 | 3% |
Clinical study results | 1 | 3% |
New treatment approaches | 1 | 3% |
Singh V (2026). [PMID: 41632426](https://pubmed.ncbi.nlm.nih.gov/41632426/). *Mol Cell Biochem*. [Gene Therapy / Novel Therapeutics]
Pavlova P (2026). [PMID: 41683787](https://pubmed.ncbi.nlm.nih.gov/41683787/). *Int J Mol Sci*. [Basic Science / Preclinical]
Hong Y (2026). [PMID: 41242591](https://pubmed.ncbi.nlm.nih.gov/41242591/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Chen G (2026). [PMID: 41767327](https://pubmed.ncbi.nlm.nih.gov/41767327/). *Int J Ophthalmol*. [Other]
Ezra Kahtan B (2026). [PMID: 41490227](https://pubmed.ncbi.nlm.nih.gov/41490227/). *Retina*. [Basic Science / Preclinical]
Rodriguez-Martinez AC (2026). [PMID: 41626423](https://pubmed.ncbi.nlm.nih.gov/41626423/). *Ophthalmol Sci*. [Case Report / Case Series]
Wang Y (2025). [PMID: 40412791](https://pubmed.ncbi.nlm.nih.gov/40412791/). *Exp Eye Res*. [Basic Science / Preclinical]
Upadhyaya A (2025). [PMID: 39728598](https://pubmed.ncbi.nlm.nih.gov/39728598/). *Indian J Ophthalmol*. [Epidemiology / Natural History]
Cho SH (2025). [PMID: 39284539](https://pubmed.ncbi.nlm.nih.gov/39284539/). *Dev Biol*. [Basic Science / Preclinical]
Rodriguez-Martinez AC (2025). [PMID: 40243434](https://pubmed.ncbi.nlm.nih.gov/40243434/). *Int J Mol Sci*. [Case Report / Case Series]
AI-curated news mentioning Leber congenital amaurosis 8
Updated Feb 18, 2026
A study identifies dual mutations in CEP290 and GLI3 in an infant presenting with Leber congenital amaurosis and postaxial polydactyly, resembling Bardet-Biedl syndrome. This research enhances understanding of genetic contributions to these rare conditions.