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isolated anophthalmia-microphthalmia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated anophthalmia-microphthalmia syndrome

MONDO:0016764

Also known as:MAC spectrummicrophthalmia-anophthalmia-coloboma spectrumnonsyndromic anophthalmia-microphthalmia syndrome

Find Clinical TrialsTrials

Overview

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.

Clinical Trials3 registered · 3 recruiting

ResearchLimited published research (7 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 3 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

8 publications have been identified in PubMed for isolated anophthalmia-microphthalmia syndrome. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (29%), and Review / Meta-Analysis (14%).

Recent Publications

Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta obstetricia et gynecologica Scandinavica*. [Case Report / Case Series]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Italian journal of pediatrics*. [Review / Meta-Analysis]
Hazan F (2025). [PMID: 41404552](https://pubmed.ncbi.nlm.nih.gov/41404552/). *Molecular syndromology*. [Case Report / Case Series]
Armstrong GZ (2025). [PMID: 41066309](https://pubmed.ncbi.nlm.nih.gov/41066309/). *The American journal of case reports*. [Basic Science / Preclinical]
AlAbdi L (2024). [PMID: 38417950](https://pubmed.ncbi.nlm.nih.gov/38417950/). *Clinical genetics*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2542

GARD

Genetic and Rare Diseases Info Center

GARD:12085

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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isolated anophthalmia-microphthalmia syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team