Retinal Development and Disorders

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.

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.

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.

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.

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.

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.

This study shows that ROM1 can be replaced by increased PRPH2 levels to restore normal photoreceptor disc structure in knockout mice.

This paper develops a method to efficiently generate human retinal ganglion-like cells from iPSCs and uses them to study the effects of ethambutol on RGC degeneration.

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

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

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.

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.

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

This paper investigates the effects of eupatilin on cilia defects in CEP290-related retinal disease models and finds it improves cilium formation and reduces rhodopsin retention.

This paper develops an allele-specific gene editing approach to target the T17M RHO mutant allele in retinitis pigmentosa, showing improved retinal function and photoreceptor preservation in mice.

This study shows that temporal identity factors can reprogram adult Muller glial cells and fibroblasts into neurons in mice, using scRNA-seq to validate the transcriptional changes.

This study shows that Tbx3 loss in mice causes retinal angiogenesis defects similar to human ROP and FEVR, highlighting its role in eye development.

The paper shows that vsx gene mutation in zebrafish causes bipolar cell depletion and visual impairment but maintains neural retina specification, highlighting genetic redundancy and network robustness.

This study shows that Snf2h is essential for retinal progenitor cell proliferation and photoreceptor maintenance, leading to retinal dysfunction when Snf2h is deleted.

This study identifies reserpine as a drug candidate that improves photoreceptor survival in retinal ciliopathies by restoring proteostasis and ciliogenesis.

This study shows that SAHH and HMTs regulate chromatin access in chick retinas to reprogram Muller glia into progenitor cells, but not in mouse retinas.

The paper shows that cones and their retinal pathways remain functional in advanced retinal degeneration, even as cones lose their outer-segment structures.

The paper identifies genetic variants associated with photoreceptor layer thickness using OCT data from UK Biobank, revealing a continuum between normal variation and rare disease.

The paper presents a CRISPR-Cas9-mediated F0 screen in zebrafish to identify genes regulating RPE regeneration, finding eight positive and seven negative regulators, including cldn7b with novel roles in macrophage infiltration and debris clearance.

This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.

This study creates a rabbit model with USH2A mutations causing hearing loss and progressive retinal degeneration, mimicking human Usher Syndrome.

The paper investigates embryonic retinal waves, showing they involve nAChR subtypes and gap junctions, and find they do not affect ipRGC distribution.

This study uses base editing to correct a Pde6b mutation in a mouse model of retinitis pigmentosa, restoring photoreceptor function and visual ability.

The paper develops a quality control method and preclinical studies for human iPSC-derived retinal sheets for transplantation therapy, showing safety and functional integration in rat models.