Epidemiology of Stargardt Disease (STGD) and Macular Dystrophies (MDs) Expressing a STGD-like Clinical Presentation

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MDs expressing a STGD and STGD-like (i.e., STGD-type) clinical presentation are associated with considerable genetic heterogeneity. The most common STGD-type MD is recessive in nature and ABCA4-associated. A group of conditions with phenotypes very similar to those of ABCA4-linked STGD disease is characterized by rarer genetic etiologies and diverse inheritance patterns. The epidemiology of these diseases is not well defined. We aimed to characterize STGD and STGD-like MD using real-world data to assess current epidemiology. A structured landscape review of EMBASE, MEDLINE, PsycINFO, EconLit, and Cochrane databases was conducted to summarize global evidence of the burden primarily of STGD-ABCA4 MDs and was supplemented by a parallel non-systematic review of the literature for non-ABCA4 STGD-type MDs. To assess the prevalence of these STGD-type MDs, a phenotype-focused, gene-driven data mining of the My Retina Tracker Registry (MRTR; Foundation Fighting Blindness, Columbia, MD) inherited retinal disease (IRD) database was conducted. STGD-type MDs were identified based on known disease-causing genotypes. The landscape review identified 35 STGD-focused publications meeting the search criteria, 26 of which specified ABCA4-mutation status. The literature search for non-ABCA4 STGD-type MDs identified primarily small case series and case reports on PRPH2 and PROM1; studies with longitudinal, systematic information on non-ABCA4 STGD-type MDs were limited. At the time of analysis, the MRTR included 26,447 IRD cases, with a genetic diagnostic yield of 45-50%. We identified 3349 cases meeting our search criteria; 2096 with ABCA4 mutations (7.9% of IRDs in MRTR) and 1253 (4.7% of IRDs in MRTR) with non-ABCA4 mutations in the main target genes (PRPH2, n=883; PROM1, n=167; ELOVL4, n=17; MT-TL1, n=117; CDHR1, n=69). Non-ABCA4 mutations accounted for over a third (37.4%; 1253/3349) of all STGD-type MDs and ABCA4 comprised 62.6% (2096/3349). Understanding the epidemiology of all STGD-type MDs is essential for advancing disease knowledge and treatments. Findings suggest that non-ABCA4 STGD-type MDs are not as rare as once perceived and account for a large number of individuals with a significant unmet need. Prospective natural history studies are needed to better understand these clinical phenotypes, disease progression, and patient-reported outcomes. This abstract was presented at the 2026 ARVO Annual Meeting, held in Denver, CO, May 3-7, 2026.

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