Retinal Development and Disorders

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina

The paper identifies distinct neurogenic progenitor cell populations in the embryonic mouse retina that balance cell type production through Notch signaling and lateral inhibition.

Encapsulated cell technology delivers ciliary neurotrophic factor to promote JAK/STAT-dependent photoreceptor survival in retinal degeneration

This study shows NT-501 reduces photoreceptor death in retinal models by CNTF-dependent JAK/STAT3 activation, establishing an optimal dose range for efficacy.

A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction

The paper presents a high-resolution map of RHO missense variants' trafficking and evaluates pharmacologic correction with YC-001, identifying pathogenic variants and therapeutic potential.

Muller glia mediated regeneration restores neuronal diversity and retinal circuit organization in the adult zebrafish

This study shows that Muller glia-mediated regeneration in adult zebrafish restores neuronal diversity and retinal circuit organization after injury.

The SoxC transcription factors regulate multiple early retinal lineages and function in parallel with Atoh7 to promote retinal ganglion cell genesis

This study investigates the role of SoxC transcription factors in retinal development, showing they regulate multiple early retinal lineages and function alongside Atoh7 to promote retinal ganglion cell genesis.

AAV-mediated age- and circuit-dependent restoration of photoreceptor synaptic structure and function in α2δ4-associated retinal synaptopathy

This study shows that AAV-mediated 2δ4 gene therapy can restore photoreceptor synaptic structure and function in a mouse model of retinal synaptopathy, but the effectiveness depends on age and circuit type.

Single anticodon-edited tRNA therapy targeting highly prevalent Arg>Ter premature termination codons causing inherited retinal diseases

This paper develops a single therapeutic molecule targeting the most common class of nonsense variants in inherited retinal diseases using anticodon-edited tRNA.

Cone photoreceptor ablation in microglia-deficient larval zebrafish retina elicits a regenerative response alongside a compensatory immune cell response

This study examines the regenerative response in zebrafish retinas after cone photoreceptor ablation, comparing microglia-sufficient and -deficient conditions, and identifies compensatory immune cell responses.

Transcriptional regulation by Tbx2 paralogs creates diversity within photoreceptor subtypes

This study identifies Tbx2 paralogs as regulators of photoreceptor subtype identity in zebrafish, showing their distinct roles in cone subtype generation and maintenance.

Rod pathway blockade improves visual function in a mouse model of photoreceptor degeneration

The paper shows that blocking rod pathways in a mouse model of retinitis pigmentosa reduces aberrant activity and improves cone-mediated visual function.

Ocular Safety and Efficacy of AAV-mediated Tyrosinase Gene Augmentation in a Nonhuman Primate Model

This study evaluates the safety and efficacy of AAV-mediated TYR gene augmentation in nonhuman primates for OCA1 treatment, showing localized hypermelanosis and RPE transduction without severe adverse effects.

An early CYP26A1/CRYAA progenitor-glial domain marks the presumptive macular region during human retinal development

The paper identifies a CYP26A1/CRYAA progenitor-glial domain in the human retina that marks the presumptive macula and links it to regional gliogenic maturation and specialized Muller glial populations.

Neuroprotective Effect of Intraperitoneal Humanin-G in Retinal Degeneration of Royal College of Surgeons Rats

This study investigates the effect of intraperitoneal Humanin-G on retinal function and gene expression in RCS rats with retinal degeneration, finding that high-dose HNG improves visual acuity.

Mutation-agnostic gene insertion therapy for RHO-associated autosomal dominant retinitis pigmentosa using zinc finger nucleases

This paper develops a mutation-agnostic gene insertion therapy for RHO-adRP using ZF-ND1-mediated HITI and validates its efficacy and safety in preclinical models.

Allele-specific correction of dominant Best vitelliform macular dystrophy in patient-derived retinal pigment epithelium

This study corrects a dominant BEST1 mutation in patient-derived RPE cells using base editing, showing improved cellular function and transcriptome normalization.

The retinal pigment epithelium undergoes anisotropic stretching and nuclear size scaling during optic cup morphogenesis in a fish model.

This study examines RPE morphogenesis in fish, showing anisotropic stretching and nuclear scaling during optic cup formation, with differences between cave and surface-dwelling morphs.

Disabling Muller Glia Preserves Retinal Function After Retinal Injury

This study shows that disabling Muller glia Dicer1 preserves retinal function after injury in mice, with the most protection seen in Rlbp1-CreER-driven mice.

Chronic Hypoxic Signalling Reprograms Metabolism and Alters Redox and Lipid Homeostasis in Rod Photoreceptors

This study investigates how chronic hypoxia reprograms metabolism and alters redox and lipid homeostasis in rod photoreceptors using a mouse model.

Synergistic Inhibition of Notch Signaling and Forced Cell Cycle Re-entry Drive Müller Glia Reprogramming in Uninjured Mouse Retina

This study shows that inhibiting Notch signaling and forcing cell cycle re-entry in Müller glia promotes their reprogramming into neurons in uninjured mouse retina.

Overexpression of +TIPs EB1, EB3, and DCX in cones of Danio rerio results in eye organomegaly and hypertrophy of cone photoreceptors

Overexpressing EB1, EB3, and DCX in zebrafish cone photoreceptors causes eye enlargement and cone hypertrophy, with distinct retinal defects depending on the protein.

Retinal network dysfunction precedes structural degeneration in severe GUCA1A cone-rod dystrophy

This study shows that retinal network dysfunction occurs before structural degeneration in severe GUCA1A cone-rod dystrophy, suggesting an early therapeutic window.

Gene Supplementation of MYO7A or activation of Myo7b for treatment of Usher syndrome 1B

This study evaluates gene supplementation of MYO7A via dual AAVs and CRISPR/Cas activation of Myo7b in animal models and human retinal organoids to treat Usher syndrome 1B.

Aberrant retinal structure and vasculature in mouse models of dominant retinopathies caused by CRX homeodomain mutations

This study examines retinal and vascular abnormalities in mouse models with CRX homeodomain mutations, finding disrupted photoreceptor differentiation and retinal rosettes that affect inner neuron localization and vasculature.

Apoptosis-induced self-renewal of neurogenic progenitors safeguards retinal development against extensive cell loss

The paper shows that neurogenic progenitors in zebrafish retinas can undergo self-renewal to compensate for apoptosis, ensuring proper development despite cell loss.

Klf4 overexpression remodels chromatin to reprogram late retinal progenitors toward an retinal ganglion cell-like fate

This study shows Klf4 overexpression reprograms late retinal progenitor cells to adopt a retinal ganglion cell-like identity through transcriptional and epigenetic changes.

Biomarkers indicate altered outer retinal fluid homeostasis in the absence of Kv2.1/Kv8.2 channels.

The paper investigates the role of Kv2.1/Kv8.2 channels in outer retinal fluid homeostasis using mouse models and finds altered fluid dynamics and upregulated osmosensitive genes in their absence.

Systemic, RPE-directed AAV-Tyrosinase therapy restores ocular pigmentation in an OCA1 mouse model

This study demonstrates that systemic delivery of an RPE-directed AAV-Tyr vector restores ocular pigmentation and reduces photophobia in an OCA1 mouse model.

Pathogenic impact of ABCA4 missense variants in the structurally uncharacterized ECD1 region: implications for Stargardt disease.

The paper evaluates the pathogenicity of ABCA4 missense variants in the uncharacterized ECD1 region using in silico and in vitro methods, identifying variants that disrupt protein stability and function.

The tetraspanin disc proteins, peripherin-2 and ROM1, facilitate CNG channel localization to the rod outer segment

This study shows that peripherin-2's tetraspanin domain is essential for CNG channel localization to rod outer segments, and that ROM1 can compensate for its loss.

Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoids

This study shows that loss of INPP5E in human retinal organoids disrupts photoreceptor outer segment membrane biogenesis and alters protein localization.