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patterned macular dystrophy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

patterned macular dystrophy 2

MONDO:0012162

Also known as:CTNNA1 patterned macular dystrophyMDPT2butterfly-shaped pigmentary maculary dystrophy 2

Overview

Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.

GeneticsAutosomal dominant · CTNNA1 (chr 5)

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 common findings: Reduced visual acuity and Pattern dystrophy of the retina; and sometimes findings: Foveal hyperpigmentation. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Foveal hyperpigmentation

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.

CTNNA1 encodes catenin alpha 1 (906 aa). Associates with the cytoplasmic domain of a variety of cadherins. Highest expression in Nerve Tibial (263.7 TPM) and Artery Tibial (233.0 TPM).

Patterned macular dystrophy 2 is associated with mutations in the CTNNA1 gene on chromosome 5.

The CTNNA1 protein participates in CDH1 associates with CTNND1, CDH19 associates with catenins, and CTNNB1, JUP bind CDH1 pathways.

CTNNA1 is classified as a druggable target (Clinically Actionable category) with score 4.0.

Diagnosis

Genetic testing for CTNNA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for patterned macular dystrophy 2 has been reported in the published literature.

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 patterned macular dystrophy 2.

216 publications have been identified in PubMed for patterned macular dystrophy 2. Research spans Epidemiology / Natural History (31%), Basic Science / Preclinical (21%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	62	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608970

GARD

Genetic and Rare Diseases Info Center

GARD:18238

Questions for Your Care Team

→Should I pursue genetic testing for CTNNA1, 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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patterned macular dystrophy 2

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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