Early-Onset Retinopathy in Patients With Variants in Leading to Impaired Taurine Transport

Do newly identified biallelic variants confirm its involvement in retinal degeneration and expand the genetic and clinical spectrum of the disease?In this cohort study, 7 affected and 10 unaffected individuals from 4 unrelated families with Leber congenital amaurosis/early-onset retinal dystrophy were investigated. Findings suggested that the observed clinical phenotypes in all the affected individuals were due to biallelic pathogenic variants in the gene, encoding the taurine transporter TauT.Impaired TauT function was associated with disrupted taurine transport and early-onset retinal degeneration in this study.

Corresponding Authors: Carlo Rivolta, PhD, Institute of Molecular and Clinical Ophthalmology Basel, Mittlere Strasse 91, 4031 Basel, Switzerland (carlo.rivolta@iob.ch); L. Keith Henry, Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, W315, Grand Forks, ND 58202 (keith.henry@und.edu).

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