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retinal macular dystrophy type 2 (MCDR2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinal macular dystrophy type 2

MONDO:0011957

Also known as:MCDR2macular dystrophy, retinal, type 2macular dystrophy, retinal, 2

Overview

Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.

GeneticsAutosomal dominant · PROM1 (chr 4)

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: Granular macular appearance, Dyschromatopsia, Reduced visual acuity, and Perifoveal ring of hyperautofluorescence and 3 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Granular macular appearance, Macular dystrophy, Retinal pigment epithelial atrophy

Genetic Landscape

PROM1 function has not been fully characterized.

Retinal macular dystrophy type 2 is associated with mutations in the PROM1 gene on chromosome 4.

Diagnosis

Genetic testing for PROM1 is available. Testing is considered confirmatory for diagnosis.

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 retinal macular dystrophy type 2.

103 publications have been identified in PubMed for retinal macular dystrophy type 2. Kisho has analyzed 25 by research type. Research spans Review / Meta-Analysis (28%), Basic Science / Preclinical (28%), and Epidemiology / Natural History (24%).

Research Type	Count	% of Total
Research summaries	7	28%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608051

Orphanet

European rare disease database

Orphanet:319640

GARD

Genetic and Rare Diseases Info Center

GARD:17467

Questions for Your Care Team

→Should I pursue genetic testing for PROM1, 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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Kisho

retinal macular dystrophy type 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

retinal macular dystrophy type 2

Overview

Clinical Presentation

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

Explore clinical features

Recent Publications