[HTML][HTML] Non-vasogenic cystoid maculopathies

A Gaudric, I Audo, C Vignal, A Couturier… - Progress in Retinal and …, 2022 - Elsevier
Besides cystoid macular edema due to a blood-retinal barrier breakdown, another type of
macular cystoid spaces referred to as non-vasogenic cystoid maculopathies (NVCM) may be …

Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights

X Jiang, OA Mahroo - Eye, 2021 - nature.com
The dark-adapted human electroretinogram (ERG) response to a standard bright flash
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …

[HTML][HTML] CRB1-associated retinal dystrophies: genetics, clinical characteristics, and natural history

MD Varela, M Georgiou, Y Alswaiti, J Kabbani… - American Journal of …, 2023 - Elsevier
PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …

Genotypic and phenotypic characteristics of CRB1-associated retinal dystrophies: a long-term follow-up study

M Talib, MJ van Schooneveld, MM van Genderen… - Ophthalmology, 2017 - Elsevier
Purpose To describe the phenotype, long-term clinical course, clinical variability, and
genotype of patients with CRB1-associated retinal dystrophies. Design Retrospective cohort …

[HTML][HTML] CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials

M Talib, MJ van Schooneveld, J Wijnholds… - American Journal of …, 2022 - Elsevier
PURPOSE To investigate the natural disease course of retinal dystrophies associated with
crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future …

A clinical and molecular characterisation of CRB1-associated maculopathy

KN Khan, A Robson, OAR Mahroo, G Arno… - European Journal of …, 2018 - nature.com
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a
range of retinal disease phenotypes including Leber congenital amaurosis and retinitis …

The CRB1 complex: following the trail of crumbs to a feasible gene therapy strategy

PM Quinn, LP Pellissier, J Wijnholds - Frontiers in neuroscience, 2017 - frontiersin.org
Once considered science fiction, gene therapy is rapidly becoming scientific reality, targeting
a growing number of the approximately 250 genes linked to hereditary retinal disorders such …

Retinogenesis of the human fetal retina: an apical polarity perspective

PMJ Quinn, J Wijnholds - Genes, 2019 - mdpi.com
The Crumbs complex has prominent roles in the control of apical cell polarity, in the coupling
of cell density sensing to downstream cell signaling pathways, and in regulating junctional …

AAV-CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model

TM Buck, RM Vos, CH Alves, J Wijnholds - Molecular Therapy-Methods & …, 2021 - cell.com
Loss of Crumbs homolog 1 (CRB1) or CRB2 proteins in Müller cells or photoreceptors in the
mouse retina results in a CRB dose-dependent retinal phenotype. In this study, we present a …

CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function

PM Quinn, CH Alves, J Klooster… - Human molecular …, 2018 - academic.oup.com
The mammalian apical-basal determinant Crumbs homolog-1 (CRB1) plays a crucial role in
retinal structure and function by the maintenance of adherens junctions between …