Stargardt disease masquerades. Issue 3 (May 2021)

• Record Type: Journal Article
• Authors: Ricca, Aaron M.; Han, Ian C.; Sohn, Elliott H.
• Is Part Of: Current opinion in ophthalmology. Volume 32:Issue 3(2021)
• Publication Date: 2021-05
• Subjects: ABCA4 -- Batten disease -- CLN3 -- ELOVL4 -- genetic eye disease -- inherited retinal diseases -- macular dystrophy -- maternally inherited diabetes and deafness -- pattern dystrophy -- PROM1 -- Stargardt disease; Ophthalmology -- Periodicals; Eye Diseases -- Indexes; Eye Diseases -- Periodicals; Review Literature -- Indexes; Review Literature -- Periodicals; Vision Disorders -- Indexes; Vision Disorders -- Periodicals; 617.7
• DOI: 10.1097/ICU.0000000000000750
• Languages: English
• ISSNs: 1040-8738

Abstract

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.