Retinitis Pigmentosa News and Research

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Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye). RP causes the breakdown of photoreceptor cells (cells in the retina that detect light). Photoreceptor cells capture and process light helping us to see. As these cells breakdown and die, patients experience progressive vision loss. The most common feature of all forms of RP is a gradual breakdown of rods (retinal cells that detect dim light) and cones (retinal cells that detect light and color). Most forms of RP first cause the breakdown of rod cells. These forms of RP, sometimes called rod-cone dystrophy, usually begin with night blindness. Night blindness is somewhat like the experience normally sighted individuals encounter when entering a dark movie theatre on a bright, sunny day. However, patients with RP cannot adjust well to dark and dimly lit environments.

High-resolution atlas illustrates the development of human retina

What cell types are found in which human tissue, and where? Which genes are active in the individual cells, and which proteins are found there?

8 May 2023

Using engineered stem cells to treat ALS and retinitis pigmentosa

Cedars-Sinai investigators are developing a novel way to treat amyotrophic lateral sclerosis (ALS) and retinitis pigmentosa using engineered stem cells that may eventually lead to personalized treatments.

20 Apr 2023

Research reveals molecular features of rare mtDNA mutations

A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies and genetic diagnosis of embryos prior to their implantation.

13 Apr 2023

CRISPR-based genome editing restores the vision of mice with retinitis pigmentosa

Researchers in China have successfully restored the vision of mice with retinitis pigmentosa, one of the major causes of blindness in humans.

17 Mar 2023

Do hPSC-derived retinal neurons possess intrinsic potential to form new synaptic connections after extraction from organoids?

Researchers successfully demonstrated that lab-grown retinal organoids made new synaptic connections, theoretically establishing their potential to treat blindness due to retinal degenerative diseases.

13 Jan 2023

Research shows re-formation of synaptic connectivity in dissociated retinal organoids

Retinal cells grown from stem cells can reach out and connect with neighbors, according to a new study, completing a "handshake" that may show the cells are ready for trials in humans with degenerative eye disorders.

4 Jan 2023

Researchers discover new cellular component with importance for the sense of smell

Researchers at Umeå University have discovered a previously unknown cellular component, an organelle, inside neurons that we use to perceive smell.

4 Jan 2023

Study shows de novo origination of functional microproteins

In a new study, researchers performed a genomic analysis to investigate the origination of human microproteins of biological importance.

23 Dec 2022

Research estimates the evolutionary origins of functional human microgenes

Modern humans evolutionarily split from our chimpanzee ancestors nearly 7 million years ago, yet we are continuing to evolve.

20 Dec 2022

Proof-of-principle study: Novel tool advances potential way to deliver gene therapy

Johns Hopkins Medicine researchers say they have successfully used a cell's natural process for making proteins to "slide" genetic instructions into a cell and produce critical proteins missing from those cells.

28 Oct 2022

Study reveals tiny gene fragments as crucial new players in retinal development and vision

Researchers at the Centre for Genomic Regulation in Barcelona reveal that Srrm3 is a master regulator gene crucial for the development of photoreceptors, cells in the back of the retina which capture and process light, sending signals to the brain that enable vision.

13 Jul 2022

New discovery could lead to the development of therapeutic approaches for retinitis pigmentosa

Retinitis pigmentosa, a degenerative genetic disease of the eye, is characterized by progressive vision loss, usually leading to blindness.

17 Jun 2022

Topical ocular administration of progesterone could be viable treatment for retinitis pigmentosa

Retinitis pigmentosa is a degenerative disease affecting the photoreceptor cells in the retina, known as cones and rods.

30 May 2022

Discovery provides a more precise picture of the retina's optical properties

Researchers at the National Eye Institute (NEI) have discovered that power-producing organelles in the eye's photoreceptor cells, called mitochondria, function as microlenses that help channel light to these cells' outer segments where it's converted into nerve signals.

2 Mar 2022

Desipramine and L-cycloserine together reduce ceramide levels in the retina and enhance vision

Researchers from the University of California, Irvine have discovered that the absence of Adiponectin receptor 1 protein (AdipoR1), one of the principal enzymes regulating ceramide homeostasis in the retina, leads to an accumulation of ceramides in the retina, resulting in progressive photoreceptor cell death and ultimately vision loss.

28 Jan 2022

Cryo-ET reveals molecular mechanisms underlying gene mutations within the eye

For the first time, University of California, Irvine researchers in collaboration with the Max-Planck Institute of Biochemistry, have revealed, at a molecular level, key structural determinants of the highly specialized rod outer segment (ROS) membrane architecture of the eye, which is instrumental to vision.

5 Jan 2022

Researchers uncover production mechanism of protein crucial for vision

Every 6 minutes someone is told they're going blind. One of the major causes of human blindness is a disease called Retinitis Pigmentosa (RP), which causes progressive degeneration of the retina and vision loss.

18 Dec 2021

HyVIS project to develop bionic synapses for retinal prostheses

HyVIS, the European project coordinated by the IIT-Istituto Italiano di Tecnologia (Italian Institute of Technology), is about to start.

3 Dec 2021

Scientists identify new genes associated with familial Meniere's disease

A team of scientists from the University of Granada (UGR) and GENYO (Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research—led by Pablo Roman-Naranjo and Jose Antonio López-Escámez, researcher in charge of the Biohealth Research Institute in Granada (ibs.GRANADA)—has identified new genes associated with familial Meniere's disease.

1 Dec 2021

Researchers identify new gene variants that may cause inherited retinal dystrophies

An international team of researchers, led by scientists at University of California San Diego and Shiley Eye Institute at UC San Diego Health, has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.

20 Oct 2021