Associated Papers
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.
Bianco L et al.
American Journal of Ophthalmology, 2024
Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial.
Kvanta A et al.
Nature Communications, 2024
Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.
Burstedt M et al.
Investigative Ophthalmology & Visual Science, 2023
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.
Bocquet B et al.
Ophthalmology Science, 2021
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA et al.
Clinical Genetics, 2021
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.
Torres-Costa S et al.
European Journal of Ophthalmology, 2021
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M et al.
Acta Ophthalmologica, 2013
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.
Golovleva I et al.
Advances in Experimental Medicine and Biology, 2010
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
Köhn L et al.
Investigative Ophthalmology & Visual Science, 2008
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Humbert G et al.
Investigative Ophthalmology & Visual Science, 2006
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
Burstedt MS et al.
Investigative Ophthalmology & Visual Science, 1999
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