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Review
. 2021 May 1;32(3):214-224.
doi: 10.1097/ICU.0000000000000750.

Stargardt disease masquerades

Aaron M Ricca  1 , Ian C Han, Elliott H Sohn
Affiliations
Review

Stargardt disease masquerades

Aaron M Ricca et al. Curr Opin Ophthalmol. .

Abstract

Purpose of review: Stargardt 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 findings: Multimodal 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.

Summary: This review highlights the key similarities and differences, in history, clinical examination and multimodal imaging, to help distinguish between Stargardt disease and other macular dystrophies. These findings can help direct a focused molecular analysis for accurate diagnosis, which is critical in the era of gene and stem cell therapies.

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References

    1. Stone EM, Andorf JL, Whitmore SS, et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology 2017; 124:1314–1331.
    1. Sohn EH, Francis PJ, Duncan JL, et al. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing Best macular dystrophy. Arch Ophthalmol 2009; 127:913–920.
    1. Haugsdal J, Sohn EH. Age related macular degeneration: from one medical student to another. Eyerounds.org, 2013. Available at: https://webeye.ophth.uiowa.edu/eyeforum/tutorials/AMD-medical-student/in... . [Accessed 26 April 2020]
    1. Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet 2017; 390:849–860.
    1. Maguire AM, Russell SR, Wellman JA, et al. Efficacy, safety, and durability of voretigene neparvovecrzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials. Ophthalmology 2019; 126:1273–1285.

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