Clinical Scorecard: Inherited Retinal Diseases: Identification and Management in Optometry

At a Glance

Key Highlights

• Prevalence of IRDs in the US has nearly doubled from 2016 to 2023, now at 106 per 100,000 people.
• Advances in multimodal imaging (e.g., OCT) and functional testing (e.g., full-field electroretinography) enable accurate diagnosis and monitoring.
• Genetic testing can clarify diagnosis and guide management, improving patient quality of life.

Guideline-Based Recommendations

Diagnosis

• Utilize multimodal imaging techniques such as optical coherence tomography (OCT) for structural assessment.
• Perform functional testing including full-field electroretinography to evaluate retinal function.
• Refer patients for genetic testing to confirm inherited retinal disease diagnosis.

Management

• Implement individualized management strategies based on genetic and clinical findings.
• Provide low-vision services to support patients’ remaining vision and quality of life.
• Schedule regular follow-up appointments to monitor disease progression.

Monitoring & Follow-up

• Conduct periodic multimodal imaging and functional testing to assess progression.
• Evaluate patient-reported difficulties with vision during follow-up visits.

Risks

• Misdiagnosis as other retinal conditions such as dry age-related macular degeneration may delay appropriate management.
• Progressive vision loss impacting quality of life if not properly identified and managed.

Patient & Prescribing Data

Patients with suspected or confirmed inherited retinal diseases, including those initially diagnosed with other retinal degenerations.

Accurate diagnosis via genetic testing and multimodal imaging enables tailored management strategies that can significantly improve patient outcomes and quality of life.

Clinical Best Practices

• Maintain a high index of suspicion for IRDs in patients presenting with retinal degeneration symptoms.
• Incorporate multimodal imaging and functional testing routinely in the evaluation of suspected IRD cases.
• Leverage genetic testing referrals to confirm diagnosis and inform management.
• Utilize low-vision rehabilitation services to optimize patient function.
• Educate patients about their condition and involve them in management decisions.
• Document and bill for diagnostic and monitoring services appropriately to support practice sustainability.

References

• Abbass NJ et al. Trends and disparities in the incidence and prevalence of inherited retinal diseases in the United States. Am J Ophthalmol. 2025.