How is RPE65-related dominant retinopathy diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for RPE65-related dominant retinopathy?

Information about treatment is currently limited for this condition.

What complications can arise from RPE65-related dominant retinopathy?

Complications from RPE65-related dominant retinopathy can include progressive vision loss as the condition affects the retina. Since the symptoms are limited, it is important to monitor vision regularly. Some people may experience difficulties with night vision or peripheral vision, which can impact daily activities.

How does RPE65-related dominant retinopathy affect daily life?

Living with RPE65-related dominant retinopathy may require adjustments in daily life, especially as vision changes. People may need to use special lighting or tools to help with tasks like reading or driving. Support from family and friends can also be very helpful in managing these challenges.

What is the prognosis for someone with RPE65-related dominant retinopathy?

Information about the prognosis for RPE65-related dominant retinopathy is currently limited. Since the condition can lead to progressive vision loss, it is important to have regular check-ups with an eye specialist. Ongoing research may provide more insights into the long-term outlook for individuals with this condition.

Is RPE65-related dominant retinopathy hereditary, and how does it affect family planning?

Yes, RPE65-related dominant retinopathy is hereditary because it is caused by a change in the RPE65 gene that is inherited in a dominant manner. This means that if one parent has the condition, there is a chance their children could inherit it. Families considering having children may want to discuss genetic counseling to understand the risks better.

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RPE65-related dominant retinopathy (RP87) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

RPE65-related dominant retinopathy

MONDO:0100452

Also known as:RP87dominant RPE65 retinopathyretinitis pigmentosa 87 with choroidal involvement

Overview

A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The three phenotypes of autosomal recessive RPE65-related retinal degeneration, from most severe to mildest, are Leber congenital amaurosis (LCA), early-onset severe retinal dystrophy (EOSRD), and juvenile retinitis pigmentosa (RP). Systemic manifestations have not been reported in autosomal recessive RPE65-related retinal degeneration. RPE65-related LCA is a severe inherited retinal degeneration with onset of visual manifestations frequently within in the first year of life . Visual function is generally poor (but in some instances central vision is variably preserved) and is often accompanied by nystagmus and sluggish or near-absent pupillary responses.

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 RPE65-related dominant retinopathy. 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 RPE65-related dominant retinopathy.

16 publications have been identified in PubMed for RPE65-related dominant retinopathy. Research spans Review / Meta-Analysis (31%), Basic Science / Preclinical (31%), and Case Report / Case Series (25%).

Research Type	Count	% of Total
Research summaries	5	31%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about RPE65-related dominant retinopathy

RPE65-related dominant retinopathy is a rare retinal condition caused by a change in one copy of the RPE65 gene that increases its function. This condition affects the retina, the light-sensitive layer at the back of the eye, which can lead to vision problems. The disease is also known by other names such as RP87, dominant RPE65 retinopathy, and retinitis pigmentosa 87 with choroidal involvement. The change in the RPE65 gene disrupts normal retinal function. Research into this condition is still developing, and information is continually updated as we learn more about how gene changes affect eye health. The nature of this gene variant means that the condition is inherited in a dominant manner, meaning that only one copy of the mutated gene is needed for the condition to occur.

Information about symptoms is currently limited for this condition.

This condition is caused by a heterozygous gain of function variant in the RPE65 gene. In people with this gene variant, one copy of the gene has an increased activity that leads to retinal dysfunction. Being a genetic condition, it arises from an inherited change in the gene, though further details about additional risk factors are not available. Associated genes include RPE65.

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Kisho

RPE65-related dominant retinopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

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

RPE65-related dominant retinopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is RPE65-related dominant retinopathy?

What are the symptoms of RPE65-related dominant retinopathy?

What causes RPE65-related dominant retinopathy?

How is RPE65-related dominant retinopathy diagnosed?

Are there treatments for RPE65-related dominant retinopathy?

What complications can arise from RPE65-related dominant retinopathy?

How does RPE65-related dominant retinopathy affect daily life?

What is the prognosis for someone with RPE65-related dominant retinopathy?

Is RPE65-related dominant retinopathy hereditary, and how does it affect family planning?

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