Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

doi:10.1001/jamaophthalmol.2025.4875

Article

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

JAMA ophthalmology - 1 Jan 2026

Ullah Mukhtar, Rehman Atta Ur, Shetty Madhur, Allen Michael D, Ullah Ehsan, Signorini Sabrina G, des Roziers Cyril Burin, Grijalva Rosalie M, Rashid Abdur, Munir Asad, Porretta Alessandra Pia, Valente Enza Maria, Agather Aime R, Dimopoulos Ioannis, Hufnagel Robert B, Malandain Edouard, Coursimault Juliette, Ansar Muhammad, Antonarakis Stylianos E, Superti-Furga Andrea, Jan Sanaullah, Brooks Brian P, Calzetti Giacomo, Guan Bin, Quinodoz Mathieu, Henry L Keith, Rivolta Carlo

Abstract excerpt

Importance: Inherited retinal dystrophies are a group of disorders that may lead to progressive vision loss. Improved knowledge of their molecular genetics is important for accurate diagnosis or development of targeted therapies. Objective: To identify pathogenic variants in the SLC6A6 gene (encoding TauT, the main transporter for taurine) and assess their role in the molecular pathogenesis of hereditary...

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Humans
Female
Male
Taurine

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

Abstract excerpt

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