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Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.
Features include: Cataract, Microphthalmia, and Iris coloboma.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Cataract |
Age of onset: at birth.
VSX2 function has not been fully characterized.
Microphthalmia, isolated, with coloboma 3 is associated with mutations in the VSX2 gene on chromosome 14.
Genetic testing for VSX2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for microphthalmia, isolated, with coloboma 3 has been reported in the published literature.
No clinical trials have been registered for microphthalmia, isolated, with coloboma 3.
18 publications have been identified in PubMed for microphthalmia, isolated, with coloboma 3. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (22%), and Case Report / Case Series (11%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 39% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:19 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Research summaries
4 |
22% |
Patient case studies | 2 | 11% |
Disease patterns and progression | 2 | 11% |
Other research | 1 | 6% |
Testing and diagnosis research | 1 | 6% |
Clinical study results | 1 | 6% |
Brock DC (2026). [PMID: 41632798](https://pubmed.ncbi.nlm.nih.gov/41632798/). *PLoS genetics*. [Basic Science / Preclinical]
Li Z (2026). [PMID: 42071822](https://pubmed.ncbi.nlm.nih.gov/42071822/). *Medicine (Baltimore)*. [Review / Meta-Analysis]
Firn K (2026). [PMID: 40465813](https://pubmed.ncbi.nlm.nih.gov/40465813/). *Unknown Journal*. [Other]
Seese SE (2026). [PMID: 41339071](https://pubmed.ncbi.nlm.nih.gov/41339071/). *Journal of medical genetics*. [Epidemiology / Natural History]
Pamanji R (2025). [PMID: 40440767](https://pubmed.ncbi.nlm.nih.gov/40440767/). *Comparative biochemistry and physiology. Part D, Genomics & proteomics*. [Basic Science / Preclinical]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Italian journal of pediatrics*. [Review / Meta-Analysis]
Major K (2025). [PMID: 40986393](https://pubmed.ncbi.nlm.nih.gov/40986393/). *Orvosi hetilap*. [Diagnostic / Biomarker]
Zhang Z (2025). [PMID: 40193142](https://pubmed.ncbi.nlm.nih.gov/40193142/). *The Journal of craniofacial surgery*. [Basic Science / Preclinical]
Toms M (2025). [PMID: 39648562](https://pubmed.ncbi.nlm.nih.gov/39648562/). *Clinical genetics*. [Basic Science / Preclinical]
Arcot Sadagopan K (2025). [PMID: 40083070](https://pubmed.ncbi.nlm.nih.gov/40083070/). *Ophthalmic genetics*. [Basic Science / Preclinical]