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Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study
Yunyu Zhou1, Yue Liu1, Huan Chen1
1Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Ophthalmology. Retina
|April 4, 2026
Summary
This study characterizes the clinical and genetic spectrum of Tubulin Tyrosine Ligase Like Family Member 5 (TTLL5)-related retinal dystrophy. High myopia is a common feature across cone dystrophy, cone-rod dystrophy, and rod-cone dystrophy phenotypes.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Inherited retinal dystrophies (IRDs) represent a heterogeneous group of disorders.
- Tubulin Tyrosine Ligase Like Family Member 5 (TTLL5) gene variants are implicated in certain IRDs.
- Characterizing the full spectrum of TTLL5-related disease is crucial for diagnosis and management.
Purpose of the Study:
- To comprehensively describe the clinical features and genetic variations associated with TTLL5-related retinal dystrophy.
- To identify genotype-phenotype correlations within the TTLL5-related disease spectrum.
Main Methods:
- Retrospective observational study of 21 individuals from 19 families with biallelic TTLL5 variants.
- Genetic diagnosis via whole-exome sequencing, Sanger confirmation, and co-segregation analysis.
- Clinical evaluation included visual acuity, multimodal imaging, visual fields, and electroretinography (ffERG).
Main Results:
- The cohort presented with cone dystrophy (CD), cone-rod dystrophy (CRD), or rod-cone dystrophy (RCD).
- Myopia, particularly high myopia, was a prevalent feature across all phenotypes.
- Novel TTLL5 variants were identified, with a recurrent p.Gly146Glu variant consistently linked to CRD.
Conclusions:
- TTLL5-related retinal dystrophy presents a diverse clinical spectrum with myopia as a common characteristic.
- Specific TTLL5 variants, like p.Gly146Glu, show allele-phenotype correlations, particularly with CRD.
- These findings broaden the understanding of TTLL5-related diseases, aiding diagnosis, counseling, and future research.
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