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A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
No clinical trials have been registered for microphthalmia, isolated, with coloboma.
12 publications have been identified in PubMed for microphthalmia, isolated, with coloboma. Research spans Basic Science / Preclinical (55%), Case Report / Case Series (27%), and Other (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 | 55% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
3 |
27% |
Other research | 1 | 9% |
Research summaries | 1 | 9% |
Seese SE (2026). [PMID: 41339071](https://pubmed.ncbi.nlm.nih.gov/41339071/). *J Med Genet*. [Basic Science / Preclinical]
Monfries C (2025). [PMID: 40401611](https://pubmed.ncbi.nlm.nih.gov/40401611/). *Dis Model Mech*. [Basic Science / Preclinical]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Ital J Pediatr*. [Review / Meta-Analysis]
Zhao YE (2025). [PMID: 41256338](https://pubmed.ncbi.nlm.nih.gov/41256338/). *Case Rep Ophthalmol Med*. [Case Report / Case Series]
Chiriatti L (2025). [PMID: 40004505](https://pubmed.ncbi.nlm.nih.gov/40004505/). *Genes (Basel)*. [Case Report / Case Series]
Neelathi UM (2025). [PMID: 40610405](https://pubmed.ncbi.nlm.nih.gov/40610405/). *Nat Commun*. [Basic Science / Preclinical]
Jacquemart J (2025). [PMID: 39424520](https://pubmed.ncbi.nlm.nih.gov/39424520/). *J Fr Ophtalmol*. [Other]
Cortés-González V (2024). [PMID: 39503780](https://pubmed.ncbi.nlm.nih.gov/39503780/). *Hum Genet*. [Case Report / Case Series]
Neelathi UM (2024). [PMID: 39606449](https://pubmed.ncbi.nlm.nih.gov/39606449/). *Res Sq*. [Basic Science / Preclinical]
Neelathi UM (2024). [PMID: 39606382](https://pubmed.ncbi.nlm.nih.gov/39606382/). *medRxiv*. [Basic Science / Preclinical]