Retinal Development and Disorders

Efficient workflow for validating homology-independent targeted integration-mediated gene insertion in rod photoreceptor cells to treat dominant-negative mutations causing retinitis pigmentosa

High temporal frequency light response in mouse retina requires FAT3 signaling in bipolar cells

This study identifies FAT3's role in bipolar cells for high-frequency light response in mouse retina, showing its necessity for synaptic localization of GRIK1.

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Episodic live imaging of cone photoreceptor maturation in GNAT2-EGFP retinal organoids

The paper describes the generation of a human cone photoreceptor reporter line using CRISPR/Cas9 and demonstrates its use for live imaging of cone maturation in retinal organoids.

Robust reprogramming of glia into neurons by inhibition of Notch signaling and NFI factors in adult mammalian retina.

This study shows that inhibiting Notch signaling and NFI factors can efficiently reprogram adult mammalian retinal glia into neurons, with enhanced effects under retinal injury.

A Common Cause for Nystagmus in Different Congenital Stationary Night Blindness Mouse Models

The paper shows that nystagmus and oscillating retinal ganglion cells are common features in different mouse models of congenital stationary night blindness.

A slc38a8 mouse model of FHONDA syndrome faithfully recapitulates the visual deficits of albinism without pigmentation defects

The paper generates a mouse model of FHONDA syndrome with mutations in SLC38A8, showing normal pigmentation but visual deficits similar to albinism.

Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion

This study investigates the effects of HBS1L deficiency on retinal dystrophy, showing proteomic changes and photoreceptor cell loss in both human and mouse models.

Identification of Evolutionarily Conserved VSX2 Enhancers in Retinal Development

The paper identifies evolutionarily conserved VSX2 enhancer modules in retinal development and shows their functional conservation across species.

Transcriptomic comparison of two selective retinal cell ablation paradigms in zebrafish reveals shared and cell-specific regenerative responses

The paper compares transcriptomic responses in zebrafish following rod photoreceptor or bipolar cell loss, identifying cell-specific and shared regenerative gene programs and immune-related regulators.

Pharmacological cAMP stimulation via prostaglandin receptors rescues ciliary defects in CEP290-deficient patient and mouse models

This study shows that Taprenepag, a PGE2 receptor agonist, improves cilia formation and light sensitivity in CEP290-deficient models by stimulating cAMP synthesis.

The Effects of Aging on Rod Bipolar Cell Ribbon Synapses

This study examines age-related changes in rod bipolar cell ribbon synapses in zebrafish, finding reduced synaptic ribbons and altered calcium dynamics in older fish.

DISTINCT METABOLIC STATES DIRECT RETINAL PIGMENT EPITHELIUM CELL FATE DECISIONS

This study shows that metabolic states, particularly glycolysis and oxidative metabolism, influence RPE cell fate decisions during regeneration.

Txnip deletions and missense alleles prolong the survival of cones in a retinitis pigmentosa mouse model

This study investigates the effects of Txnip alleles and related proteins on cone survival in a retinitis pigmentosa mouse model, finding that specific Txnip variants and interactions with HSP90AB1 improve cone survival.

Optogenetic Targeting of AII Amacrine Cells restores Retinal Computations performed by the Inner Retina

This study shows that optogenetic stimulation of AII amacrine cells restores both ON and OFF retinal responses and enables other retinal computations in degenerate retinas.

Spatial distribution and functional integration of displaced ipRGCs

This study investigates the spatial distribution and functional integration of displaced ipRGCs in mice, showing they form complete mosaics with their regularly placed counterparts.

Self-formation of concentric zones of telencephalic and ocular tissues and directional retinal ganglion cell axons

The paper reports the self-formation of human telencephalon-eye organoids with concentric tissue zones and directional RGC axon growth, identifying key molecular and cellular mechanisms.

Maturation and Refinement of the Maculae and Foveae in the Anolis sagrei lizard

This study examines fovea and macula maturation in Anolis sagrei lizards, finding differences from primate development, including increased macular diameter and minimal photoreceptor packing post-hatching.

Dark adaptation is not necessary to drive the proliferative regeneration response in the adult zebrafish retina.

This study shows that dark adaptation is not required to induce a proliferative regeneration response in adult zebrafish retinas after light exposure.

Developmental adaptation of rod photoreceptor number via photoreception in melanopsin (OPN4) retinal ganglion cells

The paper identifies a retinal signaling pathway where melanopsin-expressing retinal ganglion cells regulate rod photoreceptor number during development through light-dependent communication.

Pou3f1 orchestrates a gene regulatory network controlling contralateral retinogeniculate projections

This study identifies Pou3f1 as a master regulator of contralateral retinogeniculate projections by controlling a gene regulatory network in developing mouse retinal ganglion cells.

Heterogeneity in quiescent Müller glia in the uninjured zebrafish retina drive differential responses following photoreceptor ablation

The paper identifies regional gene expression heterogeneity in quiescent Müller glia in zebrafish retina and shows distinct activation patterns following photoreceptor ablation.

Loss of REP1 impacts choroidal melanogenesis in choroideremia

This study shows that loss of REP1 in CHM animal models and patients causes choroidal melanogenesis defects, including reduced melanin and melanosomes, and suggests potential therapeutic strategies.

MAP4Ks inhibition promotes retinal neuron regeneration from Muumlller glia in adult mice

The paper shows that inhibiting MAP4Ks in adult mouse Muller glia promotes their reprogramming into retinal neurons, suggesting a potential therapeutic approach for retinal regeneration.

Loss of NR2E3 disrupts rod photoreceptor cell maturation causing a fate switch late in human retinal development.

This study uses human retinal organoids to show that loss of NR2E3 disrupts rod photoreceptor maturation, leading to a fate switch to cone-like cells.

The functionally plastic rod photoreceptors in the simplex retina of Little skate (Leucoraja erinacea) exhibit a hybrid rod-cone morphology and enhanced synaptic connectivity.

This paper examines the ultrastructural characteristics of rod photoreceptors in the simplex retina of Little skate, finding a hybrid rod-cone morphology and enhanced synaptic connectivity that may explain their functional plasticity across lighting conditions.

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

This study uses patient iPSC-derived models to test TRIDs for restoring PAX6 function in aniridia, identifying amlexanox as effective in increasing PAX6 levels and rescuing disease phenotypes.

Cat LCA-CRX model, homozygous for an antimorphic mutation has a unique phenotype

This study describes the ocular phenotype of homozygous CRX-mutant cats, highlighting severe retinal degeneration and unique features compared to heterozygous models.

Formation of Müller glia-derived progenitor cells in retinas depleted of microglia

The paper investigates how microglia depletion affects Muller glia-derived progenitor cell formation in chick retinas using scRNA-seq, identifying key signaling pathways involved.

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

The paper identifies ultraconserved cis-regulatory elements in the human retina linked to rare eye diseases through multi-omics analysis and genomic variant mining.