A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram

Arif O Khan; Arif O Khan

doi:10.1080/13816810.2025.2577728

November 14, 2025Ophthalmic Genetics

A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram

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Key Points

To identify the genetic variant associated with enhanced-S-cone syndrome in the United Arab Emirates.
Analysis of homozygosity for NRL variant c.339C>G; p.Try113*
Electroretinogram assessment for waveform characterization
Clinical distinction between NRL-related and NR2E3-related ESCS
Identified homozygous NRL variant in UAE population
Associated with electronegative electroretinogram waveform
Supports hypothesis of founder effect in the region

Implication

Genetic variant shows association with electronegative electroretinogram in UAE, indicating founder effect in enhanced-S-cone syndrome.

Abstract

NRL-related ESCS, related to homozygosity for NRL: 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 NRL-related ESCS from NR2E3-related ESCS.

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Cite This Study

Khan et al. (2025) studied this question.

synapsesocial.com/papers/692519a7c0ce034ddc353eb7 https://doi.org/10.1080/13816810.2025.2577728

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A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram

Key Points

Implication

Abstract

Discussion

Cite This Study

A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram

Key Points

Implication

Abstract

Discussion

Cite This Study

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