ArticleOrphanet journal of rare diseases2022
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Investigative ophthalmology & visual science · 2026Observational
- Insights into retinal disease and non-tubulin glutamylation from a RPGR-TTLL5 complex structure.The Journal of cell biology · 2026Article
- Article
- Tapetal-like sheen as a key phenotypical feature inAmerican journal of ophthalmology case reports · 2025Article
- Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.Human molecular genetics · 2024Article
- Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRInternational journal of molecular sciences · 2023Article
- Novel pathogenic variants in Tubulin Tyrosine Like 5 (Molecular vision · 2023Article
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundInherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described cause of inherited cone-rod and cone dystrophy. This study describes the unusual phenotypes of three patients with autosomal recessive mutations in TTLL5. Examination of these patients included funduscopic evaluation, spectral-domain optical coherence tomography, short-wavelength autofluorescence, and full-field electroretinography (ffERG). Genetic diagnoses were confirmed using whole exome capture. Protein modeling of the identified variants was performed to explore potential genotype-phenotype correlations.
resultsGenetic testing revealed five novel variants in TTLL5 in three unrelated patients with retinal dystrophy. Clinical imaging demonstrated features of sectoral cone-rod dystrophy and cone dystrophy, with phenotypic variability seen across all three patients. One patient also developed high-frequency hearing loss during a similar time period as the onset of retinal disease, potentially suggestive of a syndromic disorder. Retinal structure findings were corroborated with functional measures including ffERG findings that supported these diagnoses. Modeling of the five variants suggest that they cause different effects on protein function, providing a potential reason for genotype-phenotype correlation in these patients.
conclusionsThe authors report retinal phenotypic findings in three unrelated patients with novel mutations causing autosomal recessive TTLL5-mediated retinal dystrophy. These findings broaden the understanding of the phenotypes associated with TTLL5-mediated retinal disease and suggest that mutations in TTLL5 should be considered as a potential cause of sectoral retinal dystrophy in addition to cone-rod and cone dystrophies.
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