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retinitis pigmentosa 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 30

MONDO:0011935

Also known as:FSCN2 retinitis pigmentosaRP30retinitis pigmentosa caused by mutation in FSCN2

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.

GeneticsAutosomal dominant · FSCN2 (chr 17)

OnsetCHILDHOOD

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, Visual impairment, and Damage to the optic nerve (optic atrophy) and 3 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Visual impairment, Damage to the optic nerve (optic atrophy), Attenuation of retinal blood vessels

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.

FSCN2 encodes fascin actin-bundling protein 2, retinal (492 aa). Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis Highest expression in Thyroid (9.2 TPM) and Pancreas (3.6 TPM).

Retinitis pigmentosa 30 is associated with mutations in the FSCN2 gene on chromosome 17.

FSCN2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FSCN2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 30 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 retinitis pigmentosa 30.

127 publications have been identified in PubMed for retinitis pigmentosa 30. Research spans Epidemiology / Natural History (25%), Basic Science / Preclinical (24%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Disease patterns and progression	32	25%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607921

GARD

Genetic and Rare Diseases Info Center

GARD:10401

Questions for Your Care Team

→Should I pursue genetic testing for FSCN2, and what would the results mean for my family?
→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

retinitis pigmentosa 30

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 30

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