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Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.
Features include always present findings: Undetectable electroretinogram, Nystagmus, and Visual impairment. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Keratoconus, Cataract, Nystagmus |
CRX encodes cone-rod homeobox (299 aa). Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Highest expression in Testis (0.1 TPM) and Liver (0.1 TPM).
Leber congenital amaurosis 7 is associated with mutations in the CRX gene on chromosome 19.
CRX is classified as a druggable target (Transcription Factor category) with score 0.0.
Genetic testing for CRX is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Leber congenital amaurosis 7 has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
No clinical trials have been registered for Leber congenital amaurosis 7.
44 publications have been identified in PubMed for Leber congenital amaurosis 7. Research spans Epidemiology / Natural History (39%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 17 | 39% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 7
Laboratory research
13 |
30% |
Research summaries | 4 | 9% |
Clinical study results | 3 | 7% |
New treatment approaches | 3 | 7% |
Testing and diagnosis research | 2 | 5% |
Patient case studies | 2 | 5% |
Stephenson KAJ (2026). [PMID: 41679721](https://pubmed.ncbi.nlm.nih.gov/41679721/). *Can J Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Ullah M (2026). [PMID: 41343195](https://pubmed.ncbi.nlm.nih.gov/41343195/). *JAMA Ophthalmol*. [Epidemiology / Natural History]
Hwang S (2026). [PMID: 42192584](https://pubmed.ncbi.nlm.nih.gov/42192584/). *Korean J Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Rodriguez-Martinez AC (2026). [PMID: 41626423](https://pubmed.ncbi.nlm.nih.gov/41626423/). *Ophthalmol Sci*. [Basic Science / Preclinical]
Massengill MT (2026). [PMID: 41595470](https://pubmed.ncbi.nlm.nih.gov/41595470/). *Genes (Basel)*. [Basic Science / Preclinical]
Hong Y (2026). [PMID: 41242591](https://pubmed.ncbi.nlm.nih.gov/41242591/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Banjak M (2025). [PMID: 40132901](https://pubmed.ncbi.nlm.nih.gov/40132901/). *BMJ Open Ophthalmol*. [Review / Meta-Analysis]
Parameswarappa DC (2025). [PMID: 39788486](https://pubmed.ncbi.nlm.nih.gov/39788486/). *Can J Ophthalmol*. [Review / Meta-Analysis]
Park HS (2025). [PMID: 40296824](https://pubmed.ncbi.nlm.nih.gov/40296824/). *J Korean Med Sci*. [Basic Science / Preclinical]
Akyuz E (2025). [PMID: 40672310](https://pubmed.ncbi.nlm.nih.gov/40672310/). *bioRxiv*. [Basic Science / Preclinical]