Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

retinitis pigmentosa 20 (RP20) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 20

MONDO:0013425

Also known as:RP20RPE65 retinitis pigmentosaretinitis pigmentosa caused by mutation in RPE65

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.

GeneticsAutosomal recessive · RPE65 (chr 1)

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: Nyctalopia, Nystagmus, Severely reduced visual acuity, and Visual impairment and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Nystagmus, Visual impairment, 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.

RPE65 function has not been fully characterized.

Retinitis pigmentosa 20 is associated with mutations in the RPE65 gene on chromosome 1.

GeneReviews

Clinical Guidance

Genotype-phenotype correlations in autosomal recessive RPE65-related retinal degeneration do not allow reliable prediction of disease severity in an individual ; however, certain variant classes have been associated with milder or more severe phenotypes. The severe early-onset phenotypes (LCA and EOSRD) are more often associated with null variants (e.g., nonsense, frameshift, canonical splice). RPE65-related EOSRD. Compared to LCA, EOSRD reflects partial retention of isomerohydrolase activity and is generally associated with biallelic missense or hypomorphic variants that allow some residual RPE65 function.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for autosomal recessive RPE65-related retinal degeneration have been published.

Suggestive Findings

Autosomal recessive RPE65-related retinal degeneration should be suspected in individuals with the following clinical, electroretinographic, and imaging findings and family history.

Clinical findings

Source: GeneReviews — "Autosomal Recessive RPE65-Related Retinal Degeneration"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for retinitis pigmentosa 20. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for autosomal recessive RPE65-related retinal degeneration have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of individuals diagnosed with autosomal recessive RPE65-related retinal degeneration, the evaluations included (if not performed as part of the evaluation that led to the diagnosis) are recommended, and their purpose summarized. Note that some evaluations may be indicated only in individuals considering subretinal gene supplementation therapy .

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Note: No consensus surveillance guidelines exist; the intervals shown are based on expert opinion and clinical practice. Table 5. Autosomal Recessive RPE65-Related Retinal Degeneration: Recommended Surveillance

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 20.

241 publications have been identified in PubMed for retinitis pigmentosa 20. Kisho has analyzed 136 by research type. Research spans Basic Science / Preclinical (31%), Epidemiology / Natural History (23%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	42	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613794

GARD

Genetic and Rare Diseases Info Center

GARD:10404

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?

← Back to All Diseases

Kisho

retinitis pigmentosa 20

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Ophthalmologic

Refractive error

Slit lamp exam

Indirect ophthalmoscopy

Kinetic visual perimetry1 (Goldmann perimetry)

Static visual perimetry2

Fundus photography

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

retinitis pigmentosa 20

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Ophthalmologic

Refractive error

Slit lamp exam

Indirect ophthalmoscopy

Kinetic visual perimetry1 (Goldmann perimetry)

Static visual perimetry2

Fundus photography

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications