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

Rare Disease

autosomal recessive pericentral pigmentary retinopathy

MONDO:0009987

Also known as:retinitis pigmentosa, pericentralretinopathy, pericentral pigmentary, autosomal recessive

Overview

A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.

GeneticsAutosomal recessive

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Astigmatism, Strabismus, Hypermetropia, and Pigmentary retinopathy.

Organ System	Phenotype Count	Example Features
Eyes	2	Strabismus, Pigmentary retinopathy

Explore clinical features

Diagnosis

Biomarker and diagnostic research for autosomal recessive pericentral pigmentary retinopathy has been reported in the published literature.

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 autosomal recessive pericentral pigmentary retinopathy.

5 publications have been identified in PubMed for autosomal recessive pericentral pigmentary retinopathy. Research spans Diagnostic / Biomarker (40%), Other (20%), and Review / Meta-Analysis (20%).

Recent Publications

Kellner U (2025). [PMID: 39963372](https://pubmed.ncbi.nlm.nih.gov/39963372/). *Med Genet*. [Diagnostic / Biomarker]
Bae SH (2025). [PMID: 40007196](https://pubmed.ncbi.nlm.nih.gov/40007196/). *Korean J Ophthalmol*. [Diagnostic / Biomarker]
Gregory-Evans CY (2025). [PMID: 40606475](https://pubmed.ncbi.nlm.nih.gov/40606475/). *Mol Vis*. [Other]
Jones P (2024). [PMID: 39626654](https://pubmed.ncbi.nlm.nih.gov/39626654/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Piergentili M (2024). [PMID: 38792980](https://pubmed.ncbi.nlm.nih.gov/38792980/). *Medicina (Kaunas)*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:268060

GARD

Genetic and Rare Diseases Info Center

GARD:15231

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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autosomal recessive pericentral pigmentary retinopathy

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team