A homozygous <i>NRL</i> variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram
<i>NRL</i>-related ESCS, related to homozygosity for <i>NRL</i>: c.339C>G; p.Try113*, is recurrent in the UAE and likely represents founder effect. The associated ERG includes an electronegative waveform. This finding may be a way to clinically distinguish <i>NRL</i>-related ESCS from <i>NR2E3</i>-related ESCS.
Authors
- Arif O. Khan
Institutions
- Cleveland Clinic (US)
- Cleveland Clinic Lerner College of Medicine (US)
- Abu Dhabi Health Services (AE)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1080/13816810.2025.2577728
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00