Stargardt disease masquerades

Abstract

Purpose of reviewStargardt disease is the most common inherited macular dystrophy but has a wide clinical spectrum, and several inherited macular dystrophies have phenotypic similarities that can make clinical diagnosis challenging. This review seeks to highlight key clinical and multimodal imaging features to aid clinicians in accurate diagnosis. Recent findingsMultimodal imaging has provided additional information to aid in the diagnosis of Stargardt disease and its masquerades. These data from multimodal imaging are important to correlate with findings from clinical examination to help support the clinical diagnosis or guide molecular investigations.

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

“…P1 presented with fundus findings of yellow pisciform flecks extending anterior to the arcades and nasal to the optic disc, reminiscent of a Stargardt disease phenotype ( Figure 4A ) ( 18 ). The SW-AF images of P1 showed a similar pattern to the SW-AF pattern seen in Fishman group II Stargardt disease, demonstrating hyperautofluorescent flecks along the arcades, extending centrally toward the macula ( Figure 4B ) ( 22 ).…”

“…Numerous inherited retinal dystrophies that phenotypically mimic Stargardt disease have been previously reported, including those associated with variants in ELOVL4, PROM1, RDS/PRPH2, and CLN3 (15). Variants in BEST1 have been frequently suggested to also be responsible for a Stargardt-like degeneration due to a shared pathophysiology (16)(17)(18).…”

Late-onset Stargardt disease

“…The differential diagnosis of SD includes AMD; PRPH2 gene-associated pattern dystrophy; mitochondrial retinal dystrophy associated with maternally inherited diabetes and deafness (MIDD) and occasionally with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; autosomal dominant Stargardt-like macular dystrophy; and pentosan polysulfate toxic maculopathy. 2 , 3 A number of features can be used to differentiate SD from these other conditions. The drusen of AMD tend to be round and not pisciform, more centered in the macula, less symmetric between the eyes, and less intensely hyperautofluorescent.…”

“… 1 Though typically described in young patients, SD may present later in adulthood and masquerade as age-related macular degeneration (AMD) and a number of other conditions. 2 , 3 Herein, we report a case of late-onset SD, discuss the differential diagnosis, and review the role of vitamin A supplementation in SD.…”

Impact of Primary RPE Cells in a Porcine Organotypic Co-Cultivation Model

“…Patients show bilateral central visual loss caused by characteristic macular atrophy and yellow-white dots at the posterior pole of the RPE [ 7 ]. Because of its wide clinical spectrum and similarities in late onset to other macular dystrophies, SD is hard to be diagnosed and distinguish from AMD [ 8 ]. Both RP and SD are degenerative retinal diseases, and their pathogenesis is associated with a RPE dysfunction [ 9 ].…”