Study Finds 11-Year Delay, on Average, to Stargardt’s Diagnosis

To mitigate the delayed diagnosis of Stargardt’s, authors of this study suggest enhanced screening with fundus autofluorescence and macular OCT, educational programs for healthcare providers, streamlined referral pathways, early genetic testing and educating the patient on the importance of regular follow-ups and early specialist care.  Photo: Mohammad Rafieetary, OD. Click image to enlarge. Stargardt disease is the most common hereditary macular degeneration, but fundus abnormalities may not always be apparent, making the diagnosis can be particularly challenging. Since Stargardt’s is a progressive disease, delayed diagnosis can hinder patients’ clinical trial enrollment eligibility and reduce the efficacy of any investigational therapies. In a recent study, researchers sought to characterize the delay between symptom onset and diagnosis in patients with early, intermediate and late-onset Stargardt disease. They found that early-onset patients have longer delays between the onset of symptoms and diagnosis; further, decreased vision, while common across all groups, was less prevalent in late-onset patients. The findings were reported in Retina.The average time from symptom onset to the first visit with a specialist in inherited retinal disease (IRD) was nearly 11 years—10.95 to be exact—and the average time to a diagnosis was 11.41 years. Intermediate-onset patients experienced the longest delays. To improve your skills in identifying inherited retinal diseases, see this recent CE feature. One of the contributing factors includes age of onset, with early-onset patients having longer delays (5.6 years) from symptom onset to seeing a subspecialist compared to intermediate (2.66 years) and late-onset (3.4 years) groups. “This suggests that symptoms in younger patients may be initially overlooked or misattributed to other causes,” the authors wrote in their Retina paper.Decreased vision was the most common initial symptom, but was less prevalent in late-onset patients (41.2%) than in early-onset (72.7%) and intermediate-onset (62.2%) patients, which suggests varied presentations contribute to delayed recognition, especially in the late-onset group.Another factor identified by the researchers is transition to specialist care. A significant delay was found between subspecialist and IRD specialist visits—8.1 years—indicating a gap in the referral process or awareness of specialized care. “Interestingly, socioeconomic factors such as social vulnerability index and distance to the tertiary care center were not significantly associated with the type of Stargardt disease or delays in diagnosis,” the authors explained in their paper. “This suggests that other factors, possibly related to disease recognition and referral patterns, play a more significant role in diagnostic delays.”These delays also result in missed opportunities for early intervention, counseling and potential participation in clinical trials, the authors noted. For instance, a statistically significant decline in visual acuity was observed between the first subspecialist visit and the IRD specialist visit. In addition, only 27.6% of patients had an intact subfoveal ellipsoid zone at their first inherited retinal disease specialist visit, with early and intermediate-onset patients being less likely to have an intact ellipsoid zone compared to late-onset patients.“In fact, nearly 90% of early-onset Stargardt disease patients do not have any subfoveal ellipsoid zone at time of presentation to the inherited retinal disease clinic,” the authors wrote in their paper. “This finding underscores the importance of early detection and monitoring of retinal structural changes.”Implementing targeted solutions can help improve outcomes and quality of life for these patients. Some of those solutions the authors suggest include enhanced screening with fundus autofluorescence and macular OCT, educational programs for healthcare providers, streamlined referral pathways, early genetic testing and educating the patient on the importance of regular follow-ups and early specialist care.Click here for the journal source. Li AS, Moreno PS, Puente CE, Maldonado RS. Factors influencing the delayed diagnosis of Stargardt disease and impact on therapeutic opportunities. Retina. September 22, 2025. [Epub ahead of print.] This article was developed by the editorial staff in conjunction with experts in the field. In the process, AI may have been among the editorial tools used to meet the goals of human editors, who approved all content.