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vitelliform macular dystrophy 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitelliform macular dystrophy 5

MONDO:0014509

Also known as:IMPG2 vitelliform macular dystrophymacular dystrophy, vitelliform, 5macular dystrophy, vitelliform, type 5

Overview

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.

GeneticsAutosomal dominant · IMPG2 (chr 3)

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: Reduced visual acuity; and common findings: Vitelliform-like macular lesions, Macular dystrophy, and Moderately reduced visual acuity. 5 total HPO annotations.

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

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.

IMPG2 encodes interphotoreceptor matrix proteoglycan 2 (1,241 aa). Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Highest expression in Fallopian Tube (0.8 TPM) and Kidney Medulla (0.7 TPM).

Vitelliform macular dystrophy 5 is associated with mutations in the IMPG2 gene on chromosome 3.

IMPG2 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for IMPG2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for vitelliform macular dystrophy 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 vitelliform macular dystrophy 5.

23 publications have been identified in PubMed for vitelliform macular dystrophy 5. Research spans Case Report / Case Series (26%), Epidemiology / Natural History (26%), and Diagnostic / Biomarker (22%).

Research Type	Count	% of Total
Patient case studies	6	26%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616152

GARD

Genetic and Rare Diseases Info Center

GARD:16065

Questions for Your Care Team

→Should I pursue genetic testing for IMPG2, 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 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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