Search Results - Open Polar - "retinitis pigmentosa"

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Phenotype variations of retinal dystrophies caused by mutations in the <scp>RLBP</scp>1 gene

by Hipp, Stephanie, Zobor, Gergely, Glöckle, Nicola, Mohr, Julia, Kohl, Susanne, Zrenner, Eberhart, Weisschuh, Nicole, Zobor, Ditta
Published in Acta Ophthalmologica (2014)
“... ), Bothnia‐type dystrophy ( BD ), Newfoundland rod‐cone dystrophy ( NFRCD ), retinitis pigmentosa ( RP...”

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Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

by Schlegel, Domino K, Ramkumar, Srinivasagan, von Lintig, Johannes, Neuhauss, Stephan C F
Published 2021
“... inherited clinical phenotypes, including Bothnia dystrophy, retinitis pigmentosa, retinitis punctata...”

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