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Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study.
Zhou Yunyu, Liu Yue, Chen Huan, Yu Yang, Li Yamei, Sun Zixi et al.
Ophthalmol RetinaMar 20260 citationsCohort Study
This study characterized TTLL5-related retinal dystrophy, finding a broad spectrum (CD, CRD, RCD) and high myopia. A recurrent variant (p.Gly146Glu) consistently linked to CRD, expanding understanding for diagnosis and future treatments.