FACTORS INFLUENCING THE DELAYED DIAGNOSIS OF STARGARDT DISEASE AND IMPACT ON THERAPEUTIC OPPORTUNITIES
Patients with STGD face long delays from symptom onset to molecular diagnosis, with progressive vision loss and missed opportunities for clinical trial enrollment. Contributing factors include age of onset, types of initial symptoms, and transitions in care from subspecialist to IRD specialist. Multimodal screening, more streamlined referral pathways, expedited genetic testing, and greater awareness of highly variable STGD phenotypes may mitigate these delays.
Authors
- Angela S. Li (ORCID: https://orcid.org/0000-0002-0397-2193)
- Ramiro S. Maldonado (ORCID: https://orcid.org/0000-0002-8440-2095)
- Cesar Estrada Puente
Institutions
- Duke University (US)
Publication Details
- Journal
- Retina
- Published
- 2025-09-23
- DOI
- https://doi.org/10.1097/iae.0000000000004691
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00