FACTORS INFLUENCING THE DELAYED DIAGNOSIS OF STARGARDT DISEASE AND IMPACT ON THERAPEUTIC OPPORTUNITIES

Area of Science:

• Ophthalmology
• Genetics
• Medical Diagnostics

Background:

• Stargardt Disease (STGD) is a common inherited retinal disease causing progressive vision loss.
• The variability in STGD phenotypes and initial symptoms can complicate early diagnosis.

Purpose of the Study:

• To analyze the diagnostic delay in Stargardt Disease (STGD) based on age of onset.
• To identify factors contributing to the prolonged time from symptom onset to molecular diagnosis.

Main Methods:

• Retrospective chart review of 87 patients with molecularly confirmed STGD.
• Analysis of time intervals from symptom onset to initial sub-specialist and inherited retinal disease (IRD) specialist visits.

Main Results:

• The average delay from symptom onset to an IRD specialist was over 10 years.
• Intermediate-onset STGD showed significantly longer diagnostic delays compared to early and late-onset forms.
• Visual acuity declined significantly during the diagnostic delay period.

Conclusions:

• Long diagnostic delays in STGD contribute to irreversible vision loss and missed clinical trial opportunities.
• Factors influencing delay include age of onset, initial symptoms, and care transitions.
• Multimodal screening, streamlined referrals, and increased awareness are crucial to mitigate diagnostic delays.