Retinal Development and Disorders

Polyaxonal A1 amacrine cells form a spatially extended network in primate retina

The paper identifies and characterizes a long-range inhibitory circuit in primate retina involving A1 amacrine cells and recursive bistratified ganglion cells, revealing their network organization and spike dynamics.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

Blue light compromises cellular fate of intrinsically photosensitive Müller glial cells in the developing chicken retina.

This study shows blue light exposure reduces pluripotency and increases neuronal differentiation in Müller glial cells from chicken retinas.

Alterations in phototransduction timing, dark adaptation and GNAT1 trafficking in GNAT1-edited Xenopus laevis.

The paper examines the effects of GNAT1 mutations in Xenopus laevis, showing altered phototransduction timing, dark adaptation, and GNAT1 trafficking in different genetic backgrounds.

Retinal Phd2 ablation partially rescues Crb1Crb2-associated Leber congenital amaurosis and alters metabolic signaling

This study shows that deleting Phd2 in Crb1/Crb2-deficient mice partially improves retinal function and structure but does not correct underlying defects.

Preclinical Development and Safety of Laterally Spreading Dual AAV.SPR-MYO7A Vectors for the Treatment of Usher Syndrome Type 1B

This paper develops and tests dual AAV vectors for treating USH1B by reconstituting full-length MYO7A expression, showing safety and efficacy in non-human primates.

Foxp1 Coordinates Early Temporal Identity and Neurogenic Progression in Retinal Progenitors

This study identifies Foxp1 as a transcriptional regulator that coordinates early progenitor identity with neurogenic progression in the developing retina by activating early-stage genes and proneural factors while repressing late temporal factors.

Cone outer segment renewal in vivo involves progressive particle formation at the photoreceptor-RPE interface

This study uses live imaging in zebrafish to show that cone outer segments are removed in small, successive particles at the cone-RPE interface without extracellular accumulation.

Functional Validation of Known BEST1 Variants Using a Robust Halide-Sensitive YFP Quenching Assay

The paper develops a halide-sensitive YFP quenching assay to functionally validate BEST1 variants and distinguish loss-of-function from gain-of-function mutations.

Microglia support regeneration of rod photoreceptors in larval zebrafish retina through Nrf2-independent mechanisms

This study shows microglia support rod photoreceptor regeneration in larval zebrafish, but Nrf2-independent mechanisms handle redox functions during regeneration.

Validation of a Commercially Available Non-Woven Fabric Electrode for Mouse Electroretinography

This paper evaluates a non-woven fabric electrode for mouse electroretinography, finding it comparable to standard contact lens electrodes in most metrics and superior in c-wave amplitudes during prolonged recordings.

TBX3 is required for the differentiation of a subset of retinal ganglion and cone photoreceptor cells

This study shows that TBX3 is essential for the differentiation of retinal ganglion and cone photoreceptor cells, with implications for glaucoma diagnosis and treatment.

ISL1 is required for the terminal differentiation and maintenance of Starburst Amacrine Cells

This study shows that ISL1 is essential for the terminal differentiation and maintenance of starburst amacrine cells in the mouse retina, affecting their identity, migration, and circuit development.

Meis2 is required for GABAergic amacrine cell survival in the developing retina.

This study shows Meis2 is essential for the survival of specific GABAergic amacrine cell subtypes in the developing mammalian retina, with loss of Meis2 leading to subtype-specific cell death after postnatal day 5.

Continuous Rod Noise and Nonlinear Synaptic Filtering Shape Signal Detection in the Primary Rod Pathway

This study investigates how continuous noise and nonlinear synaptic filtering affect signal detection in the primary rod pathway by manipulating noise sources and analyzing synaptic responses.

Single-cell spatial transcriptomics of inherited retinal degeneration reveals broad and focal organization of disease responses

The paper uses single-cell spatial transcriptomics to map transcriptional responses to inherited retinal degeneration across the retinal axis, revealing both broad and focal spatial organization of disease-related gene expression.

A synthetic PGC1α co-activator reprograms microglial immunometabolism to preserve cone function in retinal degeneration

Pseudotime trajectory analysis reveals divergent rod photoreceptor states during dark adaptation

The paper analyzes single-cell RNA-seq data to reveal two divergent rod photoreceptor states during dark adaptation using pseudotime trajectory inference.

Wavelet Transform improves time-frequency characterization of the Electroretinographic Oscillatory Potentials as compared to Short-Time Fourier Transform across experimental and clinical models

This study compares wavelet transform and short-time Fourier transform for analyzing electroretinographic oscillatory potentials, finding wavelet transform provides better time-frequency resolution and disease-specific insights.

A genome-scale ORF screen for resilience factors that protect the RPE and restore vision in aged mice

The paper identifies resilience factors in aged mice using a genome-scale ORF screen, finding NKX2-5 variants that restore vision and reduce frailty.

Multiomic Profiling Links RDH12-Dependent Retinaldehyde Detoxification to Membrane Remodeling and Ferroptosis

VCP inhibition prevents cone photoreceptor degeneration in the cpfl1 mouse model of achromatopsia

This study shows that inhibiting VCP with ML240 prevents cone photoreceptor degeneration in a mouse model of achromatopsia without affecting rod photoreceptors.

An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS

The paper identifies an NR2F1-dependent retinoic acid network in mice that regulates retinal specialization and links its disruption to foveal hypoplasia in BBSOAS patients.

A non-retinoid triazolopyrimidine RBP4 antagonist for the treatment of Stargardt disease

This paper describes a non-retinoid RBP4 antagonist, AKR-XI-85, that reduces lipofuscin accumulation in a mouse model of Stargardt disease.

USH2A High-Capacity Adenoviral Vector Restores usherin, whirlin, and ADGRV1 in Photoreceptor Cells of Retinal Organoids

This study demonstrates that high-capacity adenoviral vectors can restore USH2A protein expression and its interacting partners in USH2A-defective retinal organoids.

PLCXD2 preferentially hydrolyzes phosphatidylinositol and supports retinal lipid homeostasis and photoreceptor integrity

This study identifies PLCXD2 as a phosphatidylinositol-preferring phospholipase that maintains retinal lipid homeostasis and photoreceptor integrity.

A Muller glia-retinal pigment epithelium apical network surrounding cone outer segments in fish and mouse

The paper describes a revised model of the subretinal space architecture in fish and mouse, showing that Muller glia and RPE interact with cone outer segments through extended apical processes.

Rapid evolution of cone identity and retinal topography in deep-water crater lake cichlids

This study compares visual adaptation in deep- and shallow-water cichlids using single-cell transcriptomics, revealing differences in opsin expression and retinal organization linked to habitat and ecology.

Mechanistic Insights into MYO1C-Mediated Rhodopsin Trafficking and Rod Photoreceptor Homeostasis.

This study identifies MYO1C as a regulator of rhodopsin trafficking and rod photoreceptor homeostasis, showing its cell-autonomous role in maintaining phototransduction recovery.

Müller glia subtypes define neuro-glial associations and spatial morphogen axes in the zebrafish retina

The paper identifies three constitutive Muller glia subtypes in the zebrafish retina that define spatial morphogen axes and neuron-associated programs, showing functional heterogeneity in the healthy retina.