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Features include always present findings: Retinal dystrophy; and common findings: Premature ovarian insufficiency, Mild intellectual disability, and Goiter. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Mild intellectual disability |
RCBTB1 function has not been fully characterized.
RCBTB1-related retinopathy is caused by mutations in the RCBTB1 gene on chromosome 13.
Genetic testing for RCBTB1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for RCBTB1-related retinopathy has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 3 common features.
No clinical trials have been registered for RCBTB1-related retinopathy.
302 publications have been identified in PubMed for RCBTB1-related retinopathy. Kisho has analyzed 130 by research type. Research spans Review / Meta-Analysis (51%), Epidemiology / Natural History (16%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 66 | 51% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about RCBTB1-related retinopathy
1 |
Secondary amenorrhea |
Lungs and breathing | 1 | Lung scarring (pulmonary fibrosis) |
Eyes | 1 | Retinal dystrophy |
Disease patterns and progression
21 |
16% |
Laboratory research | 20 | 15% |
New treatment approaches | 9 | 7% |
Patient case studies | 6 | 5% |
Testing and diagnosis research | 5 | 4% |
Other research | 2 | 2% |
Clinical study results | 1 | 1% |
Mukundan A (2026). [PMID: 41316839](https://pubmed.ncbi.nlm.nih.gov/41316839/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Liu T (2026). [PMID: 42106184](https://pubmed.ncbi.nlm.nih.gov/42106184/). *Handb Clin Neurol*. [Review / Meta-Analysis]
Land MR (2026). [PMID: 41750360](https://pubmed.ncbi.nlm.nih.gov/41750360/). *Biomolecules*. [Review / Meta-Analysis]
Marmor MF (2026). [PMID: 41232611](https://pubmed.ncbi.nlm.nih.gov/41232611/). *Ophthalmology*. [Review / Meta-Analysis]
Zhao CS (2026). [PMID: 41608829](https://pubmed.ncbi.nlm.nih.gov/41608829/). *Curr Opin Ophthalmol*. [Review / Meta-Analysis]
Wang X (2026). [PMID: 41662529](https://pubmed.ncbi.nlm.nih.gov/41662529/). *Proc Natl Acad Sci U S A*. [Gene Therapy / Novel Therapeutics]
Weiß VBN (2026). [PMID: 41538062](https://pubmed.ncbi.nlm.nih.gov/41538062/). *Ophthalmologie*. [Gene Therapy / Novel Therapeutics]
Selim MS (2026). [PMID: 41827851](https://pubmed.ncbi.nlm.nih.gov/41827851/). *Cells*. [Review / Meta-Analysis]
Niaudet C (2026). [PMID: 41271176](https://pubmed.ncbi.nlm.nih.gov/41271176/). *Radiother Oncol*. [Review / Meta-Analysis]
Ghaleb R (2025). [PMID: 40089030](https://pubmed.ncbi.nlm.nih.gov/40089030/). *Surv Ophthalmol*. [Review / Meta-Analysis]