Insights Into PROM1-Macular Disease Using Multimodal Imaging.

Maarjaliis Paavo,Winston Lee,Rait Parmann,Jose Ronaldo Lima de Carvalho,Jana Zernant,Stephen H Tsang,Rando Allikmets,Janet R Sparrow

Investigative ophthalmology & visual science（2023）

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摘要

Although PROM1-macular dystrophy (Stargardt disease 4) can exhibit phenotypic overlap with recessive Stargardt disease, significantly increased SW-AF levels were not detected. As such, elevated bisretinoid lipofuscin may not be a feature of the pathophysiology of PROM1 disease. The qAF approach could serve as a method of early differential diagnosis and may help to identify appropriate disease targets as therapeutics become available to treat inherited retinal disease.

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关键词

prominin 1, PROM1 macular, dystrophy, quantitative, fundus, autofluorescence, cence, short-wavelength fundus autofluorescence, near-infrared fundus autofluorescence, optical coherence tomography, full-field electroretinography, retina

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