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Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.
Features include always present findings: Opacification of the corneal stroma and Microphthalmia. 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Opacification of the corneal stroma |
Brain and nerves |
VSX2 function has not been fully characterized.
Isolated microphthalmia 2 is associated with mutations in the VSX2 gene on chromosome 14.
Genetic testing for VSX2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
No clinical trials have been registered for isolated microphthalmia 2.
30 publications have been identified in PubMed for isolated microphthalmia 2. Research spans Basic Science / Preclinical (54%), Case Report / Case Series (21%), and Review / Meta-Analysis (11%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 15 | 54% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:08 PM UTC
Online Mendelian Inheritance in Man
1
Intellectual disability |
Age of onset: at birth.
6 |
21% |
Research summaries | 3 | 11% |
Disease patterns and progression | 3 | 11% |
New treatment approaches | 1 | 4% |
Wang J (2026). [PMID: 41770736](https://pubmed.ncbi.nlm.nih.gov/41770736/). *PLoS One*. [Case Report / Case Series]
Xin Q (2026). [PMID: 41380317](https://pubmed.ncbi.nlm.nih.gov/41380317/). *Poult Sci*. [Basic Science / Preclinical]
Rozumek GM (2026). [PMID: 41746734](https://pubmed.ncbi.nlm.nih.gov/41746734/). *JCI Insight*. [Basic Science / Preclinical]
Brock DC (2026). [PMID: 41632798](https://pubmed.ncbi.nlm.nih.gov/41632798/). *PLoS Genet*. [Basic Science / Preclinical]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta Obstet Gynecol Scand*. [Epidemiology / Natural History]
Choi BM (2025). [PMID: 39809510](https://pubmed.ncbi.nlm.nih.gov/39809510/). *J Microbiol Biotechnol*. [Basic Science / Preclinical]
Mei H (2025). [PMID: 40601596](https://pubmed.ncbi.nlm.nih.gov/40601596/). *Chem Biodivers*. [Basic Science / Preclinical]
Armstrong GZ (2025). [PMID: 41066309](https://pubmed.ncbi.nlm.nih.gov/41066309/). *Am J Case Rep*. [Case Report / Case Series]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Ital J Pediatr*. [Review / Meta-Analysis]
Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *Eur J Hum Genet*. [Epidemiology / Natural History]