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microphthalmia, isolated, with coloboma 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microphthalmia, isolated, with coloboma 10

MONDO:0014635

Also known as:RBP4 microphthalmia, isolated, with colobomamicrophthalmia, isolated, with coloboma caused by mutation in RBP4microphthalmia, isolated, with coloboma type 10

Overview

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.

GeneticsAutosomal dominant · RBP4 (chr 10)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include common findings: Iris coloboma and Microphthalmia; and sometimes findings: Anophthalmia, Optic pit, Microcoria, and Chorioretinal coloboma.

Organ System	Phenotype Count	Example Features
Eyes	1	Optic pit

Explore clinical features

Genetic Landscape

RBP4 function has not been fully characterized.

Microphthalmia, isolated, with coloboma 10 is associated with mutations in the RBP4 gene on chromosome 10.

Diagnosis

Genetic testing for RBP4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 common features.

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 microphthalmia, isolated, with coloboma 10.

2 publications have been identified in PubMed for microphthalmia, isolated, with coloboma 10. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Dubucs C (2024). [PMID: 39296666](https://pubmed.ncbi.nlm.nih.gov/39296666/). *Front Pediatr*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616428

GARD

Genetic and Rare Diseases Info Center

GARD:16110

Questions for Your Care Team

→Should I pursue genetic testing for RBP4, and what would the results mean for my family?
→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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microphthalmia, isolated, with coloboma 10

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team