Associated Papers
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
Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.
Richard AJ et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2021
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Ávila-Fernández A et al.
Molecular Vision, 2010
Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens.
Genead MA et al.
Ophthalmic Genetics, 2010
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
Singh HP et al.
Investigative Ophthalmology & Visual Science, 2009
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Humbert G et al.
Investigative Ophthalmology & Visual Science, 2006
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
Fishman GA et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2004
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