Retinal Development and Disorders

Evolutionary and ontogenetic shifts from aquatic to terrestrial light environments in frogs provide new insights into the vertebrate phototransduction cascade

This study examines phototransduction gene evolution in frogs, finding fewer gene losses compared to nocturnal tetrapods and highlighting environmental shifts influencing visual evolution.

Loss of Complement Factor D suppresses alternative pathway activation but fails to reduce lipofuscin accumulation in the retinal pigmented epithelium of Abca4-/- mice

The paper investigates the role of the alternative complement pathway in Stargardt disease by analyzing Abca4-/- and Cfd-/- mice, finding that while the pathway drives complement activation, it does not reduce lipofuscin accumulation.

RPE65 knockout Xenopus laevis have a compromised but detectable electroretinogram and altered visual responses, without retinal degeneration or altered melanophore dispersion

PGC-1α and PPARs cooperatively mediate photoreceptor neuroprotection in rd1 mouse inherited retinal degeneration

This study investigates the role of PPARs and PGC-1α in photoreceptor neuroprotection in rd1 mouse model of retinal degeneration, finding that their activation reduces photoreceptor death and PARP activity.

Dicer is essential for proper maturation, composition, and function in the postnatal retina.

The paper shows that Dicer/miRNAs in late retinal progenitor cells are essential for proper postnatal retinal development and function.

WFS1E864K in humans and mice causes Wolfram-like syndrome optic atrophy via early axonal mitochondrial dysfunction

Translation regulation of ATF4 by the termination complex Hbs1-Pelo is required for visual system development and function

The paper identifies ATF4 as a target of Hbs1-Pelo translation regulation, showing its role in visual system development and function in Drosophila and human cells.

Sildenafil-driven cone PDE6 inhibition alters receptive-field properties of retinal ganglion cells ex vivo

This study shows that sildenafil inhibits cone PDE6, altering RGC receptive-field properties by abolishing Off-pathway signaling and reducing high-frequency sensitivity.

Arhgef18 is a component of the outer limiting membrane required for retinal homeostasis

This study identifies Arhgef18 as a critical component of the retinal outer limiting membrane, showing its role in maintaining retinal homeostasis and preventing degeneration.

Transcriptional downregulation of rhodopsin is associated with desensitization of rods to light-induced damage in a murine model of retinitis pigmentosa.

This study shows that mutant rhodopsin causes downregulation of wild-type rhodopsin and itself, reducing light-induced damage in a mouse model of retinitis pigmentosa.

Downregulation of Transducin Delays Photoreceptor Degeneration in P23H Rhodopsin Retinitis Pigmentosa

This study shows that reducing transducin in photoreceptors of P23H mice delays photoreceptor degeneration and improves function, suggesting transducin downregulation as a potential therapy for RP.

A novel multiplex RNAi therapy simultaneously targets Hif1a and Hif2a to defy retinal degeneration in two models of AMD

This paper develops a dual-acting RNAi therapy targeting Hif1a and Hif2a to protect retinal cells in AMD models, showing superior efficacy compared to single-target therapies.

RHO1-2 meganuclease gene editing targets human P23H rhodopsin-induced retinitis pigmentosa to rejuvenate rods and maintain cones

This study demonstrates that RHO1-2 meganuclease gene editing can arrest rod degeneration and restore retinal function in a pig model of P23H rhodopsin-induced retinitis pigmentosa.

Human macula formation involves two waves of retinoic acid suppression via CYP26A1 that modulate cell cycle exit and cone subtype specification

This study examines CYP26A1's role in human macula development, showing two RA suppression waves that affect cell cycle exit and cone subtype specification.

Loss of PIKfyve in Rod Photoreceptors and RPE Cells Leads to Endolysosomal Dysfunction and Retinal Degeneration

The paper identifies PIKfyve as critical for endolysosomal function in photoreceptors and RPE cells, showing its loss leads to retinal degeneration and metabolic disturbances.

Retinoic acid-regulated epigenetic marks identify Alx1 as a direct target gene required for optic cup formation

The paper identifies Alx1 as a direct target of retinoic acid (RA) required for optic cup formation using ChIP-seq and RNA-seq in Rdh10 knockout embryos.

A median eye origin of the vertebrate retina explains its unique circuitry

The paper proposes a median eye origin for the vertebrate retina, explaining its unique circuitry through evolutionary repurposing of preexisting photoreceptor circuits.

Inner limiting Membrane Peel Extends In vivo Calcium Imaging of Retinal Ganglion Cell Activity Beyond the Fovea in Non-Human Primate

This study peels the inner limiting membrane in non-human primates to enable calcium imaging of retinal ganglion cells beyond the fovea, expanding the accessible recording area by 8-fold.

Comparative single-cell multiomic analysis reveals evolutionarily conserved and species-specific cellular mechanisms mediating natural retinal aging.

The paper identifies conserved and species-specific aging mechanisms in retinal cells across zebrafish, mice, and humans using single-cell multi-omics analyses.

Resolving the estrogen paradox in hereditary retinal degeneration: Esr1 activation suppresses Tnf-α signaling as a photoreceptor self-protection mechanism

This study identifies Esr1 activation as a protective mechanism against neuroinflammation in retinal degeneration, showing it suppresses Tnf-α signaling and reduces photoreceptor death.

Polysialic acid is a versatile marker for retinal Müller glia in common vertebrate model organisms and systems

This paper identifies polysialic acid (polySia) as a conserved marker for Muller glia across vertebrates and introduces tools to detect it in various species and models.

TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

This study maps the proximity interactome of NR2E3 and its G56R variant using TurboID, revealing interactions with retinal development complexes and identifying BCOR as enriched in the mutant network.

Chd4 remodels chromatin to control retinal cell type specification and lineage termination

This study shows that Chd4 remodels chromatin to control retinal cell fate by repressing progenitor identity and promoting rod photoreceptor production, without affecting the competence windows for early vs. late cell-type production.

Gene Therapy Rescues Cone Function in an All-cone Retina Mouse Model for Blue Cone Monochromacy with the Most Common C203R Missense Mutation

This study shows gene therapy can restore cone function and structure in a mouse model of blue cone monochromacy with the C203R mutation.

Reprogramming Factors Activate a Non-Canonical Oxidative Resilience Pathway That Can Rejuvenate RPEs and Restore Vision

OSK factors rejuvenate aged RPE cells by activating a Tet2-independent oxidative resilience pathway through GSTA4, restoring vision and reversing age-related degeneration.

Effects of treadmill exercise on retinal vascular morphology, function, and circulating immune factors in a mouse model of retinal degeneration

This study examines how treadmill exercise affects retinal vascular morphology, function, and immune factors in a mouse model of retinal degeneration, finding improved vascular health and immune response profiles in exercised mice.

PARP activity is essential for retinal photoreceptor survival in the human homologous RhoI255del mouse model for autosomal dominant retinitis pigmentosa

This study shows that PARP inhibitors cause rod photoreceptor toxicity in a dominant RP mouse model, unlike in recessive RP, and highlights the need for careful use of these drugs in RP treatment.

Genome-edited retinal organoids restore host bipolar connectivity in the primate macula

This study transplants genome-edited retinal organoids into a primate macular degeneration model, showing host bipolar cells rewire and form functional synapses with grafted photoreceptors.

Dynamic expression of ASCL1 drives neurogenesis from infant and adult macaque Müller glia into immature retinal ganglion cells

This study shows that ASCL1 can reprogram adult and infant macaque Müller glia into retinal ganglion cell-like neurons using a modified vector cassette.

Engineering single-AAV CRISPR-Cas13 RNA base editors for treatment of inherited retinal diseases

This paper develops an RNA base editor using CRISPR-Cas13 and ADAR2DD to correct mutations in inherited retinal diseases, showing up to 60% editing efficiency in vitro and partial rescue in mouse models.