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Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study.

Ophthalmology. Retina - 1 Aug 2026

Zhou Yunyu, Liu Yue, Chen Huan, Yu Yang, Li Yamei, Sun Zixi, Han XiaoXu, Li Hui, Zou Xuan, Sui Ruifang

Abstract excerpt

PURPOSE: To characterize the clinical and genetic spectrum of TTLL5-related retinal dystrophy. DESIGN: Retrospective observational study. SUBJECTS: Twenty-one affected individuals from 19 unrelated families carrying biallelic TTLL5 variants. METHODS: Patients with inherited retinal dystrophy and confirmed biallelic TTLL5 variants were retrospectively reviewed. Genetic diagnosis was established using whole-exome...

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DNA
Electroretinography
Genetic Association Studies
Retina
Retinal Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tomography, Optical Coherence

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PMID: 41933583
DOI: 10.1016/j.oret.2026.03.017

Genes

TTLL5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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