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Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.
Features include: Anophthalmia, Microphthalmia, Ankyloblepharon, and Sclerocornea.
RAX function has not been fully characterized.
Isolated microphthalmia 3 is associated with mutations in the RAX gene on chromosome 18.
Genetic testing for RAX is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for isolated microphthalmia 3 has been reported in the published literature.
No clinical trials have been registered for isolated microphthalmia 3.
23 publications have been identified in PubMed for isolated microphthalmia 3. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (19%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 9 | 43% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC
Online Mendelian Inheritance in Man
4 |
19% |
Research summaries | 3 | 14% |
Disease patterns and progression | 3 | 14% |
Testing and diagnosis research | 1 | 5% |
New treatment approaches | 1 | 5% |
Xin Q (2026). [PMID: 41380317](https://pubmed.ncbi.nlm.nih.gov/41380317/). *Poult Sci*. [Basic Science / Preclinical]
Wang J (2026). [PMID: 41770736](https://pubmed.ncbi.nlm.nih.gov/41770736/). *PLoS One*. [Basic Science / Preclinical]
Choi BM (2025). [PMID: 39809510](https://pubmed.ncbi.nlm.nih.gov/39809510/). *J Microbiol Biotechnol*. [Case Report / Case Series]
Zhang Z (2025). [PMID: 40193142](https://pubmed.ncbi.nlm.nih.gov/40193142/). *J Craniofac Surg*. [Case Report / Case Series]
Meng F (2025). [PMID: 40472006](https://pubmed.ncbi.nlm.nih.gov/40472006/). *Chem Biodivers*. [Basic Science / Preclinical]
Fan R (2025). [PMID: 40462233](https://pubmed.ncbi.nlm.nih.gov/40462233/). *Stem Cell Res Ther*. [Gene Therapy / Novel Therapeutics]
Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta Obstet Gynecol Scand*. [Epidemiology / Natural History]
Goyal S (2025). [PMID: 40491727](https://pubmed.ncbi.nlm.nih.gov/40491727/). *World J Clin Pediatr*. [Review / Meta-Analysis]
Arcot Sadagopan K (2025). [PMID: 40083070](https://pubmed.ncbi.nlm.nih.gov/40083070/). *Ophthalmic Genet*. [Case Report / Case Series]