Purpose
To define the allelic architecture and phenotypic spectrum of RP1-associated retinal dystrophies in a large Korean cohort, emphasizing recurrent truncating alleles, phasing of linked variants, and mobile-element insertions (MEIs) underdetected by standard next-generation sequencing.
Methods
This retrospective...
The Yamane technique offered shorter operative time, whereas the four-point fixation was associated with a lower risk of IOL redislocation, highlighting the importance of preoperative structural assessments in guiding the selection of fixation methods.
Jin Cho, Yong Joon Kim, Junwon Lee et al.· Retina· 0 citations
PURPOSE
To delineate the clinical and genetic spectrum of EYS-associated retinal degeneration (EYS-RD) and to quantify longitudinal progression of retinal structure and visual function.
DESIGN, SETTING, AND PARTICIPANTS
Multicenter retrospective cohort study at eight tertiary referral centers in South Korea, enrollin...
Jehwi Jeon, Dongheon Surl, H. Park et al.· American journal of ophthalm...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.