An Assistant Model for IRD Care Needs: A Randomized Control Trial

A randomized, controlled validation trial was conducted to evaluate the effectiveness of Retina4IRD (also designated as FM-IRD) in clinical settings. This trail was conducted at seven centers in China with large outpatient IRDs care .

Participants were recruited from the outpatient of IRD clinics of the participating centers, or through referrals from collaborating retinal specialists. Given that genetic testing results were unavailable at enrollment, and to prioritize the model's ability to identify patients with actionable therapeutic targets, genotypes of our randomized controlled trial were categorized into 17 classes, including mutations with available gene therapies or ongoing clinical trials. All participants provided written informed consent before enrolment assessments. All participants subsequently underwent WES testing to confirm the causative genetic mutations, which served as the gold standard for IRD gene mutation diagnosis.

Inclusion criteria

• Presenting with clinical features suggestive of suspected IRD based on the initial assessment by the physician

Exclusion criteria

• Refusal to undergo WES genetic testing.
• Screening for a history of intraocular surgery in both eyes within the past 6 months;
• Subjects with severe systemic diseases, intellectual developmental disorders, psychiatric illnesses, etc.
• Patient data that the investigator deems necessary to exclude.