Retinal Development and Disorders

Optoretinography in R9AP-bradyopsia reveals the essential role of G-protein signaling in the human cone elongation response

This study uses optoretinography in R9AP-bradyopsia patients to show that G-protein signaling is essential for the human cone elongation response.

Single-cell analysis reveals cellular heterogeneity and limits of marker-based assessment in retinal ganglion cell-enriched organoid cultures

The paper uses single-cell RNA sequencing to characterize cellular heterogeneity in RGC-enriched retinal organoids and shows marker-based assessments may overestimate RGC identity.

RIPK3 suppresses photoreceptor degeneration in a Stargardt disease mouse model

This study shows that RIPK3 protects photoreceptors in a Stargardt disease mouse model by inhibiting apoptosis rather than necroptosis.

Internal limiting basement membrane inhibits functional engraftment of transplanted human retinal ganglion cells

This study shows that disrupting the internal limiting membrane enhances the survival and functional integration of transplanted human retinal ganglion cells in the retina.

Expanding the options for therapeutic exon skipping as a future treatment for USH2A-associated disease by 3D structural modeling of newly formed hybrid domains

This study uses AlphaFold2 to predict viable hybrid domains from exon skipping combinations in USH2A, expanding therapeutic options for Usher syndrome.

Transcriptomic analysis of organotypic porcine retina cultures

This study provides a time-resolved transcriptomic reference for porcine retinal explants cultured ex vivo, revealing gene expression changes and biological processes over 10 days.

High-fidelity backpropagation through primate foveal cones

The paper investigates backpropagation in primate foveal cones and finds it effective despite cell structure, but unlikely to influence phototransduction.

mGluR6 coordinates cone terminal targeting and synaptic layer assembly during human retinal development

This study identifies mGluR6's role in human retinal development by showing its transient expression in cone photoreceptors and its requirement for proper synaptic layer assembly.

Domain-specific functions of LRIT3 in synaptic assembly and retinal signal transmission

This study investigates the role of LRIT3 domains in synaptic assembly and retinal function, showing that the LRR and IG domains are critical for TRPM1 localization and signalplex function in retinal bipolar cells.

Plagl2 unlocks the latent regenerative potential of Müller glia in the adult mouse retina

This study shows that Plagl2 reprograms adult mouse Müller glia into a progenitor-like state with both proliferative and neurogenic capabilities, enhancing retinal regeneration.

Spatial proteomic mapping of the human and mouse retina using IBEX

The paper generates spatial proteomic atlases of human and mouse retinas using IBEX, revealing protein expression patterns and structural features of retinal cell populations.

Protocadherin 9 promotes cell survival of different bipolar subtypes in the developing mouse retina

The paper identifies Protocadherin 9 as critical for promoting survival of specific bipolar neuron subtypes during mouse retinal development.

Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy

This study demonstrates that AAV-mediated PRPF31 gene therapy restores splicing homeostasis and rescues RP11 phenotypes in patient-derived RPE and retinal organoids.

Direct comparison of constitutive Rax-Cre transgenic drivers that activate in the mouse embryonic eye field

The paper compares two Rax-Cre transgenic drivers in mice to evaluate their Cre activity in the embryonic eye and extra-ocular tissues.

Characterising retinal function with optomotor visual performance in P23H rodent models of retinitis pigmentosa

This study compares electrical and behavioural measures of vision in rodent models of inherited blindness, revealing that retinal dysfunction appears well before measurable vision loss.

Retinal development driven by TET-dependent DNA demethylation

This study shows that TET-dependent DNA demethylation is essential for retinal development, as its disruption leads to blindness by altering cellular composition and photoreceptor function.

A genome-wide in vivo CRISPR screen identifies neuroprotective strategies in the mouse and human retina

The paper identifies neuroprotective genes in RP using CRISPR screens in mice and human retinal models, showing that UFD1 and UXT overexpression preserves photoreceptors and function.

Plekha7 promotes retina organization and inhibits inflammation and photoreceptor loss

This study shows that Plekha7 maintains retinal organization by regulating cadherin trafficking and epithelial structure, and its loss leads to inflammation and photoreceptor loss.

Oxidative DNA Damage Drives Apoptotic Photoreceptor Loss in NMNAT1-Associated Inherited Retinal Degeneration: A Therapeutic Opportunity

This study shows that oxidative DNA damage causes photoreceptor loss in NMNAT1-related retinal degeneration and that NAC treatment reduces damage and preserves vision.

Inducible CreERT2 mouse lines for characterization of retinal bipolar cell subtypes

The paper develops inducible CreERT2 mouse lines to characterize specific bipolar cell subtypes in the mouse retina and identifies their lineage and expression patterns.

Blocking apoptosis promotes survival and alters developmental dynamics of human retinal ganglion cells in retinal organoids

This study shows that blocking apoptosis in retinal organoids increases RGC survival but delays their development, highlighting apoptosis's role in regulating RGC quantity and dynamics.

Disease-associated microRNA, miR-9-2, regulates timing of retinal progenitor cell competence and maintenance of Müller glial identity

This study identifies miR-9-2 as a regulator of retinal progenitor cell competence and Müller glial identity, showing its role in timing cell specification and disease risk.

Cell type-focused compound screen in human organoids reveals CK1 and MAPK11 inhibition protects cone photoreceptors from death

The paper screens 2,707 compounds in human retinal organoids to identify those that protect or damage cone photoreceptors, finding CK1 and MAPK11 inhibitors as protective.

Rod photoreceptors control the ON vs OFF polarity of cone-signaling neurons

The paper shows rod photoreceptors control the dynamic switch of ON and OFF polarity in cone-signaling neurons through EAAT5 glutamate transporters.

Voltage-Gated Sodium Channel Modulation Differentially Alters ON and OFF Bipolar Cell Contributions to the Rat ERG

This study shows that modulating voltage-gated sodium channels differentially affects ON and OFF bipolar cell contributions to the ERG b-wave in rats.

Dyrk1a gene dosage controls bipolar cell development and retinal connectivity.

This study shows that Dyrk1a gene dosage affects bipolar cell development and retinal connectivity in mice.

Enhancing experience-dependent plasticity accelerates vision loss in a murine model of retinitis pigmentosa

Peroxisome dysfunction alters metabolism of photoreceptor outer segments in human retinal pigment epithelium

This study investigates how peroxisome dysfunction in human retinal pigment epithelium (RPE) affects photoreceptor outer segment metabolism, revealing disrupted fatty acid retroconversion and lipid droplet accumulation.

Genomic characterization of sub-populations in human pluripotent stem cell-derived retinal progenitor cells that drive retinal layer structure

The paper investigates retinal spheroid layer formation by analyzing Rax::GFP-positive retinal progenitor cells, revealing sequential WNT signaling and environmental factors in retinal development.

Photoreceptors have a dual dependency on both aerobic glycolysis and OXPHOS and diverge metabolically from other retinal neurons

The paper examines energy metabolism in retinal neurons, showing photoreceptors use both aerobic glycolysis and OXPHOS while inner retinal neurons rely on OXPHOS, and identifies metabolic changes in a retinitis pigmentosa mutation.