Early-Onset Retinopathy in Patients With Variants in <i>SLC6A6</i> Leading to Impaired Taurine Transport
These findings confirm and expand the role of biallelic variants in SLC6A6 in association with LCA/EORD due to impaired taurine transport. These findings suggest that patients with a diagnosis of SLC6A6-related LCA/EORD may be candidates for investigational oral taurine supplementation.
Authors
- Rosalie M. Grijalva (ORCID: https://orcid.org/0000-0002-6153-7413)
- Carlo Rivolta (ORCID: https://orcid.org/0000-0002-0733-9950)
- Ioannis Dimopoulos (ORCID: https://orcid.org/0000-0002-6081-5952)
- L. Keith Henry (ORCID: https://orcid.org/0000-0001-7998-7589)
- Ehsan Ullah (ORCID: https://orcid.org/0000-0003-0107-6608)
- Aime Agather
- Atta Ur Rehman (ORCID: https://orcid.org/0000-0002-5591-1835)
- Abdur Rashid (ORCID: https://orcid.org/0000-0001-9084-5995)
- Andrea Superti‐Furga (ORCID: https://orcid.org/0000-0002-3543-7531)
- Sanaullah Jan
- Edouard Malandain
- Sabrina Signorini (ORCID: https://orcid.org/0000-0002-3808-4372)
- Madhur Shetty (ORCID: https://orcid.org/0000-0002-6476-2261)
- Juliette Coursimault (ORCID: https://orcid.org/0000-0002-2668-5779)
- Enza Maria Valente (ORCID: https://orcid.org/0000-0002-0600-6820)
- Mathieu Quinodoz (ORCID: https://orcid.org/0000-0002-9841-4433)
- Michael D. Allen (ORCID: https://orcid.org/0000-0003-2121-8087)
- Bin Guan (ORCID: https://orcid.org/0000-0001-5986-5189)
- Asad Munir (ORCID: https://orcid.org/0000-0001-5461-3599)
- Giacomo Calzetti (ORCID: https://orcid.org/0000-0003-1391-9510)
- Cyril Burin des Roziers (ORCID: https://orcid.org/0000-0001-9720-5536)
- Muhammad Ansar (ORCID: https://orcid.org/0000-0001-5891-7063)
- Stylianos E. Antonarakis (ORCID: https://orcid.org/0000-0001-8907-5823)
- Robert B. Hufnagel (ORCID: https://orcid.org/0000-0003-3015-3545)
- Mukhtar Ullah (ORCID: https://orcid.org/0000-0003-0911-0831)
- Alessandra Pia Porretta (ORCID: https://orcid.org/0000-0001-7950-8090)
- Brian P. Brooks
Institutions
- University of Geneva (CH)
- National Institutes of Health (US)
- Université de Pau et des Pays de l'Adour (FR)
- University of Leicester (GB)
- Inserm (FR)
- University of Basel (CH)
- University of North Dakota (US)
- University of Pavia (IT)
- Hazara University (PK)
- Hayatabad Medical Complex (PK)
- Centre Hospitalier Universitaire Vaudois (CH)
- Dow University of Health Sciences (PK)
- Hôpital Cochin (FR)
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT)
- Vision Eye Institute (AU)
- Assistance Publique – Hôpitaux de Paris (FR)
- Fondation Asile des Aveugles (CH)
- National Eye Institute (US)
- Hôpital Bichat-Claude-Bernard (FR)
- Genomics (United Kingdom) (GB)
- Institute of Molecular and Clinical Ophthalmology Basel (CH)
- Université de Rouen Normandie (FR)
- University of Lausanne (CH)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2025-12-04
- DOI
- https://doi.org/10.1001/jamaophthalmol.2025.4875
- Primary Topic
- Aldose Reductase and Taurine
- Type
- article
- Field-Weighted Citation Impact
- 0.00