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Updated: May 12, 2026

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
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纵向队列中的PRPH2视网膜病变的临床和成像特征以及诊断影响

Johanna M Seddon1, Dikha De1, Laura Grunenkovaite1

  • 1Department of Ophthalmology and Visual Sciences, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States.

Investigative ophthalmology & visual science
|December 18, 2024
PubMed
概括

PRPH2基因变异导致不同的视网膜病变. L185P变体导致视力敏度更好的模式变,而c.828+3A>T则导致 fundus flavimaculatus 和中央大叶胆管变,结果更差.

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