Late-onset Stargardt disease

Alsberge, Joseph B.

doi:10.1016/j.ajoc.2022.101429

Cited by 3 publications

(2 citation statements)

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“…It is classically characterized by a “beaten-bronze” or bull’s eye appearance of the macula and the presence of subretinal lipofuscin flecks [ 3 ]. Though it typically affects young patients, STGD may present later in adulthood and can be misdiagnosed as age-related macular degeneration (AMD) [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

The Role of the Choroid in Stargardt Disease

Abdolrahimzadeh

Formisano

Pippo

et al. 2022

IJMS

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Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease.

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Section: Introductionmentioning

confidence: 99%

The Role of the Choroid in Stargardt Disease

Abdolrahimzadeh

Formisano

Pippo

et al. 2022

IJMS

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“…Stargardt disease is phenotypically characterized by progressive deterioration of central vision (gray or hazy spots), photosensitivity, delayed adjustment between light and dark, color blindness, associated with irregular macular and perimacular yellow-white fundic patches (yellowish lipofuscin flecks in and under the macula, sometimes extending outward in a ring) resembling "beaten bronze" (Tsang & Sharma, 2018). Although Stargardt disease occurs predominantly in young adults, a late-onset form has also been described (Alsberge & Agarwal, 2022). An argument for a contribution of the ABCA4 variant is that several other MNGIE patients carrying TYMP variants had normal vision and normal fundus examination (Farahvash et al, 2021).…”

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confidence: 99%