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retinitis pigmentosa 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 28

MONDO:0011630

Also known as:FAM161A retinitis pigmentosaRP28retinitis pigmentosa caused by mutation in FAM161A

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.

GeneticsAutosomal recessive · FAM161A (chr 2)

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: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, and Rod-cone dystrophy and 1 more.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Bone spicule pigmentation of the retina

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FAM161A encodes FAM161 centrosomal protein A (660 aa). Involved in ciliogenesis Highest expression in Testis (15.7 TPM) and Ovary (10.0 TPM).

Retinitis pigmentosa 28 is associated with mutations in the FAM161A gene on chromosome 2.

FAM161A is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FAM161A is available. Testing is considered confirmatory for diagnosis.

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 retinitis pigmentosa 28.

16 publications have been identified in PubMed for retinitis pigmentosa 28. Research spans Basic Science / Preclinical (56%), Case Report / Case Series (13%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Laboratory research	9	56%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606068

GARD

Genetic and Rare Diseases Info Center

GARD:10394

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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retinitis pigmentosa 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

retinitis pigmentosa 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications