<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> Isoforms

<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> Isoforms

Pathogenic variants in <i>CRB1</i> lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we reappraise the phenotype-genoty...

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Bibliographic Details
Main Authors: Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Molecular Sciences
Subjects:
<i>CRB1</i>
isoforms
early onset retinal dystrophy
Leber congenital amaurosis
macular dystrophy
Müller cells
Online Access:https://www.mdpi.com/1422-0067/22/23/12642

Internet

https://www.mdpi.com/1422-0067/22/23/12642

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