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vitelliform macular dystrophy 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitelliform macular dystrophy 4

MONDO:0014508

Also known as:IMPG1 vitelliform macular dystrophymacular dystrophy, vitelliform, 4macular dystrophy, vitelliform, type 4

Overview

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.

GeneticsAutosomal dominant · IMPG1 (chr 6)

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: Vitelliform-like macular lesions; and very common findings: Decreased Arden ratio of electrooculogram. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Macular dystrophy, Vitelliform-like macular lesions

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IMPG1 encodes interphotoreceptor matrix proteoglycan 1 (797 aa). Chondroitin sulfate-, heparin- and hyaluronan-binding protein. May serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix Highest expression in Brain Nucleus accumbens basal ganglia (3.2 TPM) and Brain Caudate basal ganglia (1.5 TPM).

Vitelliform macular dystrophy 4 is associated with mutations in the IMPG1 gene on chromosome 6.

IMPG1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for IMPG1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 1 common feature.

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 vitelliform macular dystrophy 4.

21 publications have been identified in PubMed for vitelliform macular dystrophy 4. Research spans Case Report / Case Series (57%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	12	57%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616151

GARD

Genetic and Rare Diseases Info Center

GARD:16064

Questions for Your Care Team

→Should I pursue genetic testing for IMPG1, 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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vitelliform macular dystrophy 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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