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

Rare Disease

macular dystrophy, retinal, 4

MONDO:0859568

Overview

GeneticsAutosomal dominant · CLEC3B (chr 3)

Clinical Presentation

Features include always present findings: Nyctalopia; and very common findings: Reduced OCT-measured foveal thickness. 4 total HPO annotations.

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.

CLEC3B encodes C-type lectin domain family 3 member B (202 aa). Tetranectin binds to plasminogen and to isolated kringle 4. May be involved in the packaging of molecules destined for exocytosis. Plays a role in retinal function Highest expression in Adipose Subcutaneous (386.0 TPM) and Nerve Tibial (235.2 TPM).

Macular dystrophy, retinal, 4 is associated with mutations in the CLEC3B gene on chromosome 3.

CLEC3B is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for CLEC3B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macular dystrophy, retinal, 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 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 macular dystrophy, retinal, 4.

213 publications have been identified in PubMed for macular dystrophy, retinal, 4. Research spans Clinical Trial Publication (26%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Clinical study results	56	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619977

Questions for Your Care Team

→Should I pursue genetic testing for CLEC3B, 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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macular dystrophy, retinal, 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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