Associated Papers
NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.
Raza M et al.
Ophthalmic Genetics, 2026
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.
Khan AO
Ophthalmic Genetics, 2026
Phenotypic characterisation of enhanced S Cone syndrome-a multicenter case series analysis.
Parameswarappa DC et al.
Eye (london, England), 2025
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.
Iarossi G et al.
Diagnostics (basel, Switzerland), 2022
Enhanced S-cone syndrome: Clinical spectrum in Indian population.
Naik A et al.
Indian Journal of Ophthalmology, 2019
The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.
Ehrenberg M et al.
Molecular Vision, 2019
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.
Littink KW et al.
Genes, 2018
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
Braverman I et al.
Genetic Testing and Molecular Biomarkers, 2017
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
Newman H et al.
Investigative Ophthalmology & Visual Science, 2016
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