Novel pathogenic variants in Tubulin Tyrosine Like 5 ( < em > TTLL5) < /em > associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype

CONCLUSION: Based on the protein domain location of novel TTLL5 variants and the localization of TTLL5 to the connecting cilium, we conclude that the CD/CRD disease phenotype is characterized as a ciliopathy caused by protein tracking dysfunction. This initially affects cone photoreceptors, where photoreceptor cilia express a high level of TTLL5, but extends to rod photoreceptors over time. Fundus photography correlated with SD-OCT imaging suggests that the macular sheen characteristically seen with TTLL5 mutations derives from the photoreceptor's outer segments at the posterior pole.PMID:38264610 | PMC:PMC10805330
Source: Molecular Vision - Category: Molecular Biology Authors: Source Type: research