Retinitis Pigmentosa

Retinitis pigmentosa is a hereditary, progressive degeneration of the retina due to death of rod photoreceptors initially and subsequent death of cone photoreceptors. It is characterized by deposition of pigment in the retina. Discover the latest research on retinitis pigmentosa here.

September 16, 2021

A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.

Clinical Ophthalmology
Gabriel A GuardiolaArmando L Oliver
September 16, 2021

Review: Cytoplasmic dynein motors in photoreceptors.

Molecular Vision
Tiffanie M Dahl, Wolfgang Baehr
September 16, 2021

Precision Medicine Trials in Retinal Degenerations.

Annual Review of Vision Science
Sarah R LeviStephen H Tsang
September 14, 2021

A stem cell JOURNEY IN OPHTHALMOLOGY: From the bench to the clinic.

Stem Cells Translational Medicine
Ingrid W CarasAbla A Creasey
September 14, 2021
Open Access

Frequent contiguous pattern mining over biological sequences of protein misfolded diseases.

BMC Bioinformatics
Mohammad Shahedul IslamTakeshi Koshiba
September 10, 2021

Atypical Solid Vitreous Cysts in Retinitis Pigmentosa.

Ophthalmology Retina
Sashwanthi Mohan, Vinata Rajendran
September 10, 2021
Open Access

Visual Cortex Engagement in Retinitis Pigmentosa.

International Journal of Molecular Sciences
Gianluca PietraLaura Baroncelli
September 10, 2021
Open Access

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa.

International Journal of Molecular Sciences
Renske SchellensErwin van Wijk
September 10, 2021

Application of a Mapping Method in the Analysis of Electroretinogram in Patients with Retinitis Pigmentosa.

Seminars in Ophthalmology
Samiyeh BakhshiNarsis Daftarian
September 8, 2021

N-of-1 Clinical Trials: A Scientific Approach to Personalized Medicine for Patients with Rare Retinal Diseases Such as Retinitis Pigmentosa.

Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics
Marco A Zarbin, Gary Novack
September 8, 2021

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.

Experimental Eye Research
Rosario Lopez-RodriguezCarmen Ayuso
September 9, 2021

Imaging of retina cellular and subcellular structures using ptychographic hard X-ray tomography.

Journal of Cell Science
V PanneelsG Schertler
September 6, 2021
Open Access

Inverse Problem Reveals Conditions for Characteristic Retinal Degeneration Patterns in Retinitis Pigmentosa under the Trophic Factor Hypothesis

BioRxiv : the Preprint Server for Biology
Paul A Roberts
September 6, 2021

Mapping Regional Homogeneity and Functional Connectivity of the Visual Cortex in Resting-State fMRI.

Journal of Visualized Experiments : JoVE
Xin HuangYin Shen
September 4, 2021
Case Report

Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.

Archivos De La Sociedad Española De Oftalmología
L C García GarcíaJ Escudero Gómez
September 4, 2021

Myeloid cells in retinal and brain degeneration.

The FEBS Journal
Michelle GuoQi N Cui
September 4, 2021

cGMP-PKG dependent transcriptome in normal and degenerating retinas: Novel insights into the retinitis pigmentosa pathology.

Experimental Eye Research
Jiaming ZhouPer Ekström

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

4H Leukodystrophy

4H Leukodystrophy involves hypomyelination with hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3 Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. Here is the latest research on this disease.

AAV-based Gene Therapy

Adeno-associated virus (AAV)-based gene therapy is a biological vector that is being researched to be used as a potential therapeutic option. This gene therapy is designed to insert fragments of DNA into targeted cells to help treat diseases, such as hemophilia a. Discover the latest research on AAV-based gene therapy here.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Acute Myeloid Leukaemia & RNA

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Adult Polyglucosan Body Disease

Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.

Alzheimer's Disease: Genetics

Alzheimer's disease is a neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations with this feed.

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

© 2021 Meta ULC. All rights reserved