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benign concentric annular macular dystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

benign concentric annular macular dystrophy

MONDO:0007934

Also known as:retinitis pigmentosa 91Mcdcamacular dystrophy, benign concentric annular

Overview

Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.

GeneticsAutosomal dominant · IMPG1 (chr 6)

Clinical Presentation

Features include: Foveal hyperpigmentation, Dyschromatopsia, and Macular dystrophy.

Organ System	Phenotype Count	Example Features
Skin	1	Foveal hyperpigmentation
Eyes	1	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.

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).

Benign concentric annular macular dystrophy 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.

Biomarker and diagnostic research for benign concentric annular macular dystrophy has been reported in the published literature.

Prognosis

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 benign concentric annular macular dystrophy.

29 publications have been identified in PubMed for benign concentric annular macular dystrophy. Research spans Epidemiology / Natural History (31%), Basic Science / Preclinical (28%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Disease patterns and progression	9	31%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:153870

Orphanet

European rare disease database

Orphanet:251287

GARD

Genetic and Rare Diseases Info Center

GARD:9887

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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benign concentric annular macular dystrophy

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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