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macular dystrophy with or without cone dysfunction - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

macular dystrophy with or without cone dysfunction

MONDO:0958326

Overview

GeneticsAutosomal recessive · SAMD7 (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: Macular dystrophy; and very common findings: Hypoautofluorescent retinal lesion and Reduced visual acuity. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Hypoautofluorescent retinal lesion, Macular atrophy, Macular dystrophy

Genetic Landscape

SAMD7 function has not been fully characterized.

Macular dystrophy with or without cone dysfunction is associated with mutations in the SAMD7 gene on chromosome 3.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SAMD7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macular dystrophy with or without cone dysfunction has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.

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 with or without cone dysfunction.

200 publications have been identified in PubMed for macular dystrophy with or without cone dysfunction. Kisho has analyzed 113 by research type. Research spans Review / Meta-Analysis (41%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Research summaries	46	41%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620762

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

macular dystrophy with or without cone dysfunction

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

macular dystrophy with or without cone dysfunction

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications