Article
Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
Molecular vision - 1 Jan 2023
Kolawole Olubayo U, Gregory-Evans Cheryl Y, Bikoo Riyaz, Huang Albert Z, Gregory-Evans Kevin
Abstract excerpt
Purpose: Autosomal recessive cone and cone-rod dystrophies (CD/CRD) are inherited forms of vison loss. Here, we report on and correlate the clinical phenotypes with the underlying genetic mutations. Methods: Clinical information was collected from subjects, including a family history with a chart review. They underwent a full ophthalmic examination, including best-corrected visual acuity, direct and indirect...
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