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isolated microphthalmia 5 (MCOP5) - Clinical Profile, Genes & Research | Kisho | Kisho

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.

No clinical trials have been registered for isolated microphthalmia 5.

14 publications have been identified in PubMed for isolated microphthalmia 5. Research spans Basic Science / Preclinical (50%), Epidemiology / Natural History (21%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Laboratory research	7	50%
Disease patterns and progression	3	21%
Patient case studies	2	14%
Testing and diagnosis research	1	7%
Research summaries	1	7%

Recent Publications

Rozumek GM (2026). [PMID: 41746734](https://pubmed.ncbi.nlm.nih.gov/41746734/). *JCI Insight*. [Basic Science / Preclinical]
Huang T (2026). [PMID: 41822754](https://pubmed.ncbi.nlm.nih.gov/41822754/). *Front Genet*. [Case Report / Case Series]
Zhang Z (2025). [PMID: 40193142](https://pubmed.ncbi.nlm.nih.gov/40193142/). *J Craniofac Surg*. [Epidemiology / Natural History]
Gogna N (2025). [PMID: 40154727](https://pubmed.ncbi.nlm.nih.gov/40154727/). *Exp Eye Res*. [Basic Science / Preclinical]
Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *Eur J Hum Genet*. [Basic Science / Preclinical]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta Obstet Gynecol Scand*. [Case Report / Case Series]
Lee CY (2025). [PMID: 41407325](https://pubmed.ncbi.nlm.nih.gov/41407325/). *J Microbiol Biotechnol*. [Basic Science / Preclinical]
Li Z (2024). [PMID: 39076172](https://pubmed.ncbi.nlm.nih.gov/39076172/). *Front Genet*. [Epidemiology / Natural History]
Promsut W (2024). [PMID: 37750449](https://pubmed.ncbi.nlm.nih.gov/37750449/). *Anat Rec (Hoboken)*. [Basic Science / Preclinical]
Lovatt C (2024). [PMID: 39355740](https://pubmed.ncbi.nlm.nih.gov/39355740/). *Skin Health Dis*. [Basic Science / Preclinical]

Organ System	Phenotype Count	Example Features
Eyes	5	Optic disc drusen, Cystoid macular edema, Cataract
Bones and joints	1	Bone spicule pigmentation of the retina
Muscles	1	Retinal pigment epithelial atrophy

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isolated microphthalmia 5

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isolated microphthalmia 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team