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 isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.
Features include always present findings: High hypermetropia and Microphthalmia; and common findings: Ocular hypertension. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Retinal fold, Ocular hypertension, Amblyopia |
PRSS56 function has not been fully characterized.
Isolated microphthalmia 6 is associated with mutations in the PRSS56 gene on chromosome 2.
Genetic testing for PRSS56 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for isolated microphthalmia 6 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 1 common feature.
No clinical trials have been registered for isolated microphthalmia 6.
18 publications have been identified in PubMed for isolated microphthalmia 6. Research spans Basic Science / Preclinical (56%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (11%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 10 | 56% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1 |
Ocular hypertension |
3 |
17% |
Research summaries | 2 | 11% |
Patient case studies | 2 | 11% |
Testing and diagnosis research | 1 | 6% |
Huang T (2026). [PMID: 41822754](https://pubmed.ncbi.nlm.nih.gov/41822754/). *Front Genet*. [Basic Science / Preclinical]
Rozumek GM (2026). [PMID: 41746734](https://pubmed.ncbi.nlm.nih.gov/41746734/). *JCI Insight*. [Basic Science / Preclinical]
Lee CY (2025). [PMID: 41407325](https://pubmed.ncbi.nlm.nih.gov/41407325/). *J Microbiol Biotechnol*. [Basic Science / Preclinical]
Kim M (2025). [PMID: 41440882](https://pubmed.ncbi.nlm.nih.gov/41440882/). *Mar Drugs*. [Basic Science / Preclinical]
Mei H (2025). [PMID: 40601596](https://pubmed.ncbi.nlm.nih.gov/40601596/). *Chem Biodivers*. [Basic Science / Preclinical]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta Obstet Gynecol Scand*. [Diagnostic / Biomarker]
Meng F (2025). [PMID: 40472006](https://pubmed.ncbi.nlm.nih.gov/40472006/). *Chem Biodivers*. [Basic Science / Preclinical]
Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Choi BM (2025). [PMID: 39809510](https://pubmed.ncbi.nlm.nih.gov/39809510/). *J Microbiol Biotechnol*. [Basic Science / Preclinical]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Ital J Pediatr*. [Review / Meta-Analysis]