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dominant pericentral pigmentary retinopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dominant pericentral pigmentary retinopathy

MONDO:0008381

Also known as:retinopathy, pericentral pigmentary, dominant

Overview

A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.

GeneticsAutosomal dominant

OnsetLATE

ResearchLimited published research (9 articles)

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: Bone spicule pigmentation of the retina, Nyctalopia, Blindness, and Pigmentary retinopathy and 4 more.

Organ System	Phenotype Count	Example Features
Eyes	6	Blindness, Pigmentary retinopathy, Damage to the retina (retinopathy)

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 dominant pericentral pigmentary retinopathy.

9 publications have been identified in PubMed for dominant pericentral pigmentary retinopathy. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (44%), and Review / Meta-Analysis (11%).

Recent Publications

Zhang S (2026). [PMID: 41592247](https://pubmed.ncbi.nlm.nih.gov/41592247/). *Retinal cases & brief reports*. [Case Report / Case Series]
Gregory-Evans CY (2025). [PMID: 40606475](https://pubmed.ncbi.nlm.nih.gov/40606475/). *Molecular vision*. [Basic Science / Preclinical]
Hsu H (2025). [PMID: 40475127](https://pubmed.ncbi.nlm.nih.gov/40475127/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
Fan KC (2025). [PMID: 40163632](https://pubmed.ncbi.nlm.nih.gov/40163632/). *Ophthalmic surgery, lasers & imaging retina*. [Basic Science / Preclinical]
Bonilla-Escobar FJ (2025). [PMID: 39944181](https://pubmed.ncbi.nlm.nih.gov/39944181/). *American journal of ophthalmology case reports*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 3:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:180210

GARD

Genetic and Rare Diseases Info Center

GARD:15111

Questions for Your Care Team

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dominant pericentral pigmentary retinopathy

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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