Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms

C Zeitz, AG Robson, I Audo - Progress in retinal and eye research, 2015 - Elsevier
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Retinal light damage: mechanisms and protection

DT Organisciak, DK Vaughan - Progress in retinal and eye research, 2010 - Elsevier
By its action on rhodopsin, light triggers the well-known visual transduction cascade, but can
also induce cell damage and death through phototoxic mechanisms–a comprehensive …

Molecular mechanisms of light-induced photoreceptor apoptosis and neuroprotection for retinal degeneration

A Wenzel, C Grimm, M Samardzija, CE Remé - Progress in retinal and eye …, 2005 - Elsevier
Human retinal dystrophies and degenerations and light-induced retinal degenerations in
animal models are sharing an important feature: visual cell death by apoptosis. Studying …

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of …

A Kennan, A Aherne, A Palfi… - Human molecular …, 2002 - academic.oup.com
Comparative analysis of the transcriptional profiles of approximately 6000 genes in the
retinas of wild-type mice with those carrying a targeted disruption of the rhodopsin gene was …

ADIPOR1 deficiency-induced suppression of retinal ELOVL2 and docosahexaenoic acid levels during photoreceptor degeneration and visual loss

H Osada, E Toda, K Homma, NA Guzman… - Cell Death & …, 2021 - nature.com
Lipid metabolism-related gene mutations can cause retinitis pigmentosa, a currently
untreatable blinding disease resulting from progressive neurodegeneration of the retina …

Caspase activation in an experimental model of retinal detachment

DN Zacks, V Hanninen, M Pantcheva… - … & visual science, 2003 - iovs.arvojournals.org
purpose. To test for apoptotic photoreceptor cell death and caspase activation as a function
of time after induction of an experimental retinal detachment. methods. Retinal detachments …

CNTF gene therapy confers lifelong neuroprotection in a mouse model of human retinitis pigmentosa

DM Lipinski, AR Barnard, MS Singh, C Martin, EJ Lee… - Molecular Therapy, 2015 - cell.com
The long-term outcome of neuroprotection as a therapeutic strategy for preventing cell death
in neurodegenerative disorders remains unknown, primarily due to slow disease …

Targeting neurovascular interaction in retinal disorders

Z Fu, Y Sun, B Cakir, Y Tomita, S Huang… - International journal of …, 2020 - mdpi.com
The tightly structured neural retina has a unique vascular network comprised of three
interconnected plexuses in the inner retina (and choroid for outer retina), which provide …

Bone spicule pigment formation in retinitis pigmentosa: insights from a mouse model

GB Jaissle, CA May, SA van de Pavert… - Graefe's archive for …, 2010 - Springer
Background Bone spicule pigments (BSP) are a hallmark of retinitis pigmentosa (RP). In this
study, we examined the process of BSP formation in the rhodopsin knockout (rho-/-) mouse …

Adeno-associated virus-mediated rhodopsin replacement provides therapeutic benefit in mice with a targeted disruption of the rhodopsin gene

A Palfi, S Millington-Ward, N Chadderton… - Human gene …, 2010 - liebertpub.com
The rhodopsin gene (RHO) encodes a highly expressed G protein-coupled receptor that is
central to visual transduction in rod photoreceptors. A suite of recombinant 2/5 adeno …