Retinal Development and Disorders

Cellular and molecular mechanisms of photoreceptor tuning for prey capture in larval zebrafish

The paper shows UV-cones in larval zebrafish are tuned for UV-bright prey capture through regional boosts in detection efficiency and synaptic calcium baseline.

Epigenetic adaptation prolongs photoreceptor survival during retinal degeneration

The paper shows that epigenetic changes allow some photoreceptor cells to survive longer during retinal degeneration in Spata7 mutant mice.

Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing direction-selective retinal ganglion cells

This study shows that nystagmus in CSNB patients and nob mice results from synchronized oscillations of retinal direction-selective ganglion cells in response to light.

Gene editing preserves visual function in a mouse model of retinal degeneration

This study uses CRISPR/Cas9 gene editing in a mouse model of retinal degeneration to preserve visual function, showing improved acuity and preserved light responses.

Cis-Regulatory Accessibility Directs Muller Glial Development and Regenerative Capacity

The paper identifies loss of neurogenic gene expression and motif accessibility in mature Muller glia that limits their regenerative capacity.

STAT pathway activation limits the Ascl1-mediated chromatin remodeling required for neural regeneration from Muller glia in adult mouse retina.

This study shows that STAT pathway activation limits Ascl1-mediated chromatin remodeling in Muller glia, reducing their ability to regenerate neurons in the adult mouse retina.

NRL- and CRX-guided gene network modulates photoreceptor presynapse size and positioning during retinal development

The paper identifies genes regulated by NRL and CRX that control rod photoreceptor presynapse morphology and validates their function through knockdown and CRISPR/Cas9 approaches.

Directed robust generation of functional retinal ganglion cells from Muller glia

This study reprograms mature mouse Muller glia into functional retinal ganglion cells using Math5 and Brn3 TFs, demonstrating efficient in vivo regeneration and therapeutic potential for glaucoma.

Transcriptome-based molecular staging of human stem cell-derived retinal organoids uncovers accelerated photoreceptor differentiation by 9-cis retinal

Comparing retinal organoid transcriptomes against human fetal and adult retina places each culture on a developmental scale; replacing all-trans retinoic acid with 9-cis retinal sped rod differentiation.

Loss of cell cycle control renders cells nonresponsive to local extrinsic differentiation cues

The paper shows that mutant cells with cell cycle defects either die or differentiate in wild-type environments, while hyperproliferative cells form tumor-like structures and resist differentiation.

Measuring vision using innate behaviours in mice with intact and impairedretina function

This study develops automated methods to measure vision in mice using innate defensive responses, showing they can assess visual acuity and detect retinal dysfunction.

Activation of rod input in a model of retinal degeneration reverses retinal remodeling and induces formation of normal synapses, circuitry and visual signaling in the adult retina

This study shows that activating rod input in a retinal degeneration model restores synaptic structure, circuitry, and visual signaling in adult mice.

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse

The paper identifies TMEM98 mutations in mice that cause retinal defects similar to human nanophthalmos, showing localized photoreceptor laminar disruption rather than small eyes.

Identification of genes with enriched expression in early developing mouse cone photoreceptors

The paper identifies genes enriched in early developing mouse cone photoreceptors using single-cell RNA sequencing and compares them to existing datasets.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.

Identification of PKCα-dependent phosphoproteins in mouse retina

This study identifies PKCα-dependent phosphoproteins in mouse retinal rod bipolar cells using phosphoproteomics, finding BORG4 and TPBG as differentially phosphorylated proteins in synaptic layers.

Lineage tracing analysis of cone photoreceptor-associated cis-regulatory elements in the developing chicken retina.

The paper develops a lineage tracing system in chicken embryos to characterize the progeny of ThrbCRM1-expressing retinal progenitor cells, finding they generate cone photoreceptors, horizontal cells, and specific retinal ganglion cell subtypes.

Complement C3- and CR3-dependent microglial clearance protects photoreceptors in retinitis pigmentosa

The paper shows that complement C3 and CR3 promote microglial clearance of apoptotic photoreceptors, protecting against degeneration in retinitis pigmentosa.

Redox signaling via lipid peroxidation regulates retinal progenitor cell differentiation

This study identifies 9-HSA as a mediator of retinal progenitor cell differentiation regulated by H2O2 levels and Catalase activity in zebrafish.

Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function

This paper identifies Kctd7 as a regulator of retinal vascular patterning and function, showing its role in neuronal regulation of vascular development and its potential involvement in human disease pathogenesis.

Ocular disease mechanisms elucidated by genetics of human fetal retinal pigment epithelium gene expression

This study identifies fRPE-specific genes and variants associated with AMD and myopia, revealing novel e/sQTL and mechanisms linking a common variant to both diseases.

Linking YAP to Müller glia quiescence exit in the degenerative retina

This study identifies YAP's role in Müller glia quiescence exit and regeneration by linking it to EGFR signaling and cell cycle re-entry in retinal injury.

Characterizing variants of unknown significance inrhodopsin: a functional genomics approach

This study develops a high-throughput cell-based assay to functionally characterize pathogenic variants of unknown significance in rhodopsin, recategorizing 37 variants and validating results across assays.

Retinal stem cells modulate proliferative parameters to coordinate post-embryonic morphogenesis in the eye of fish

The paper shows retinal stem cells in fish coordinate post-embryonic eye growth by modulating cell division parameters between neural retina and retinal pigmented epithelium.

A combined in silico, in vitro and clinical approach to characterise novel pathogenic missense variants in PRPF31 in retinitis pigmentosa

The paper uses in silico, in vitro, and clinical approaches to assess the pathogenicity of a novel missense variant in PRPF31 associated with retinitis pigmentosa.

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease

The paper identifies a loss-of-function mutation in the ABCA4 gene in Labrador retrievers with retinal degeneration, suggesting dogs as a model for human Stargardt disease.

Transduction of gluconeogenic enzymes prolongs cone photoreceptor survival and function in models of retinitis pigmentosa

This study shows that transducing gluconeogenic enzymes into retinal cells delays cone photoreceptor loss and visual decline in retinitis pigmentosa models, regardless of the genetic cause.

In silico analysis of IDH3A gene revealed Novel mutations associated with Retinitis Pigmentosa

The paper identifies 20 novel deleterious SNPs in the IDH3A gene associated with Retinitis Pigmentosa using bioinformatics tools.

Single cell profiling of CRISPR/Cas9-induced OTX2 deficient retinas reveals fate switch from restricted progenitors

This study uses CRISPR/Cas9 to disrupt OTX2 in retinal progenitors, revealing its role in suppressing alternative cell fates and maintaining proliferative potential.

Fetal stage melanopsin (OPN4) and GNAQ (Gαq) signaling regulates vascular development of the eye

This study shows that melanopsin and GNAQ signaling in fetal mouse eyes is necessary and sufficient for normal vascular development.