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Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.
Features include always present findings: Constriction of peripheral visual field, Slow pupillary light response, Flat cornea, and Abnormal electroretinogram and others; and very common findings: Strabismus, Nystagmus, Very low visual acuity, and Attenuation of retinal blood vessels and others. 43 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 18 | Keratoconus, Strabismus, Cataract |
RPGRIP1 function has not been fully characterized.
Leber congenital amaurosis 6 is associated with mutations in the RPGRIP1 gene on chromosome 14.
Genetic testing for RPGRIP1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Leber congenital amaurosis 6 has been reported in the published literature.
Phenotype severity distribution: 11 always present features, 8 very common features, 8 common features.
No clinical trials have been registered for Leber congenital amaurosis 6.
20 publications have been identified in PubMed for Leber congenital amaurosis 6. Research spans Epidemiology / Natural History (40%), Basic Science / Preclinical (20%), and Diagnostic / Biomarker (10%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 8 | 40% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 6
Muscles |
5 |
Macular atrophy, Foveal atrophy, Peripheral retinal atrophy |
Brain and nerves | 2 | Intellectual disability, Global developmental delay |
Bones and joints | 1 | Bone spicule pigmentation of the retina |
Laboratory research
4 |
20% |
Testing and diagnosis research | 2 | 10% |
Research summaries | 2 | 10% |
New treatment approaches | 2 | 10% |
Patient case studies | 1 | 5% |
Clinical study results | 1 | 5% |
Wang L (2026). [PMID: 41703510](https://pubmed.ncbi.nlm.nih.gov/41703510/). *BMC ophthalmology*. [Case Report / Case Series]
Mizobuchi K (2026). [PMID: 42102949](https://pubmed.ncbi.nlm.nih.gov/42102949/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Pavlova P (2026). [PMID: 41683787](https://pubmed.ncbi.nlm.nih.gov/41683787/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]
Singh V (2026). [PMID: 41632426](https://pubmed.ncbi.nlm.nih.gov/41632426/). *Molecular and cellular biochemistry*. [Review / Meta-Analysis]
Uner OE (2025). [PMID: 39763288](https://pubmed.ncbi.nlm.nih.gov/39763288/). *Ophthalmic genetics*. [Epidemiology / Natural History]
Gong X (2025). [PMID: 40232708](https://pubmed.ncbi.nlm.nih.gov/40232708/). *Investigative ophthalmology & visual science*. [Epidemiology / Natural History]
Park HS (2025). [PMID: 40296824](https://pubmed.ncbi.nlm.nih.gov/40296824/). *Journal of Korean medical science*. [Epidemiology / Natural History]
Bai Z (2025). [PMID: 40763962](https://pubmed.ncbi.nlm.nih.gov/40763962/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Diagnostic / Biomarker]
Leung A (2025). [PMID: 41404501](https://pubmed.ncbi.nlm.nih.gov/41404501/). *Molecular therapy. Nucleic acids*. [Gene Therapy / Novel Therapeutics]
Upadhyaya A (2025). [PMID: 39728598](https://pubmed.ncbi.nlm.nih.gov/39728598/). *Indian journal of ophthalmology*. [Diagnostic / Biomarker]