Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study

Author:

Burstedt Marie1,Whelan James H.2,Green Jane S.2,Holopigian Karen3,Spera Claudio4,Greco Erin5,Deslandes Jean-Yves3,Wald Michael5,Grosskreutz Cynthia5,Ni Xiao5,Normand Guillaume3,Maker Michael3,Charil Arnaud5,Rosol Michael5,He Yunsheng5,Stasi Kalliopi5

Affiliation:

1. Clinical Sciences/Ophthalmology, University of Umeå, Umeå, Sweden

2. Memorial University of Newfoundland, St John's, Newfoundland, Canada

3. Novartis Institutes for BioMedical Research, East Hanover, New Jersey, United States

4. Novartis Pharma AG, Basel, Switzerland

5. Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, United States

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Cardiology and Cardiovascular Medicine

Reference43 articles.

1. CRALBP supports the mammalian retinal visual cycle and cone vision;Xue;J Clin Invest,2015

2. Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families;Bernal;Ophthalmic Genet,2001

3. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26;Burstedt;Invest Ophthalmol Vis Sci,1999

4. Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations;Burstedt;Acta Opthalmol,2013

5. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene;Hipp;Acta Ophthalmol,2015

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