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progressive retinal dystrophy due to retinol transport defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive retinal dystrophy due to retinol transport defect

MONDO:0014060

Also known as:retinol dystrophy-iris coloboma-comedogenic acne syndromeRDCCASretinal dystrophy, iris coloboma, and comedogenic acne syndrome

Overview

GeneticsAutosomal recessive · RBP4 (chr 10)

OnsetCHILDHOOD

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Nyctalopia, Tritanomaly, Absent foveal reflex, and Comedonal acne and others; and sometimes findings: Microcornea. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Peripheral retinal atrophy, Visual impairment, Retinal dystrophy

Genetic Landscape

RBP4 function has not been fully characterized.

Progressive retinal dystrophy due to retinol transport defect 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: 8 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 progressive retinal dystrophy due to retinol transport defect.

5 publications have been identified in PubMed for progressive retinal dystrophy due to retinol transport defect. Research spans Review / Meta-Analysis (60%) and Basic Science / Preclinical (40%).

Recent Publications

Ibrahim MM (2025). [PMID: 40558514](https://pubmed.ncbi.nlm.nih.gov/40558514/). *Cells*. [Review / Meta-Analysis]
Ambrosio L (2025). [PMID: 39860622](https://pubmed.ncbi.nlm.nih.gov/39860622/). *J Clin Med*. [Review / Meta-Analysis]
Méjécase C (2025). [PMID: 40365019](https://pubmed.ncbi.nlm.nih.gov/40365019/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
Li S (2024). [PMID: 38811164](https://pubmed.ncbi.nlm.nih.gov/38811164/). *J Neurosci*. [Basic Science / Preclinical]
Zaydon YA (2024). [PMID: 39060921](https://pubmed.ncbi.nlm.nih.gov/39060921/). *Cell Biosci*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615147

Orphanet

European rare disease database

Orphanet:352718

GARD

Genetic and Rare Diseases Info Center

GARD:17529

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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progressive retinal dystrophy due to retinol transport defect

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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