Genetic Retinal Diseases: Early AI Screening Can Change Outcomes

Inherited retinal diseases affect approximately 1 in 2,000 people, often causing progressive vision loss. VisionScan's AI platform can identify characteristic patterns of genetic retinal conditions years before traditional diagnosis.

The Genetic Revolution

Gene therapy for retinal diseases has advanced dramatically in recent years. FDA-approved treatments now exist for certain inherited conditions, with dozens more in clinical trials. However, these therapies are most effective when administered before significant retinal damage occurs.

AI Pattern Recognition

VisionScan's algorithms recognize the specific patterns associated with conditions like retinitis pigmentosa, Stargardt disease, Best disease, and choroideremia. The system analyzes retinal architecture, pigment distribution, and autofluorescence patterns to suggest genetic testing for specific conditions.

Family Screening Protocols

When a genetic condition is identified in one family member, VisionScan recommends screening protocols for relatives. This cascade screening has identified dozens of pre-symptomatic cases in California families over the past year.

Case Study: The Martinez Family

When 8-year-old Carlos Martinez was diagnosed with retinitis pigmentosa through VisionScan screening, his three siblings were also tested. Two showed early signs of the condition. The family enrolled in a gene therapy clinical trial, and all three children have maintained stable vision for 18 months.

Genetic Counseling Integration

VisionScan partners with genetic counselors to help families understand testing options, inheritance patterns, and reproductive planning. This comprehensive approach addresses the emotional and practical implications of genetic diagnosis.

Research Participation

Patients identified with genetic conditions through VisionScan are offered opportunities to participate in research studies. This accelerates scientific understanding and gives patients access to cutting-edge therapies.

Hope for the Future

While some genetic retinal diseases currently have no cure, early identification allows for low vision support, occupational planning, and readiness for emerging therapies. Many patients express relief at finally having answers after years of uncertainty.