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patterned macular dystrophy 1 (MDPT1) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Pattern dystrophy of the retina; and very common findings: Yellow/white lesions of the retina. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Reticular retinal dystrophy, Macular dystrophy

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 1.

206 publications have been identified in PubMed for patterned macular dystrophy 1. Kisho has analyzed 157 by research type. Research spans Epidemiology / Natural History (36%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	57	36%
Research summaries	25	16%
Laboratory research	25	16%
Clinical study results	21	13%
Testing and diagnosis research	16	10%
Patient case studies	7	4%
New treatment approaches	6	4%

Recent Publications

Holz FG (2026). [PMID: 40967488](https://pubmed.ncbi.nlm.nih.gov/40967488/). *Ophthalmol Retina*. [Epidemiology / Natural History]
Romano F (2026). [PMID: 42135021](https://pubmed.ncbi.nlm.nih.gov/42135021/). *Br J Ophthalmol*. [Diagnostic / Biomarker]
Talks J (2026). [PMID: 41807615](https://pubmed.ncbi.nlm.nih.gov/41807615/). *Eye (Lond)*. [Epidemiology / Natural History]
Hussey KA (2026). [PMID: 41686445](https://pubmed.ncbi.nlm.nih.gov/41686445/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Bai ZP (2026). [PMID: 41211298](https://pubmed.ncbi.nlm.nih.gov/41211298/). *Ophthalmol Sci*. [Basic Science / Preclinical]
Lingardo S (2026). [PMID: 41385093](https://pubmed.ncbi.nlm.nih.gov/41385093/). *Graefes Arch Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Hanhart J (2026). [PMID: 41913248](https://pubmed.ncbi.nlm.nih.gov/41913248/). *Int J Retina Vitreous*. [Review / Meta-Analysis]
Ciarmatori N (2026). [PMID: 41615526](https://pubmed.ncbi.nlm.nih.gov/41615526/). *Int Ophthalmol*. [Clinical Trial Publication]
Chen KY (2026). [PMID: 41482231](https://pubmed.ncbi.nlm.nih.gov/41482231/). *J Nutr*. [Review / Meta-Analysis]
Ly K (2026). [PMID: 42201956](https://pubmed.ncbi.nlm.nih.gov/42201956/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

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patterned macular dystrophy 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

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Medical References

External Resources

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GARD

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patterned macular dystrophy 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team