top of page
Search
New gene therapy technique
Shows promise in stem cell model of retinitis pigmentosa Although the 2017 FDA approval of Spark Therapeutics’ gene therapy Luxturna was...
Jun 10, 2020
Retinitis pigmentosa research probes role of the enzyme DHDDS in this genetic disease
By Jeff Hansen | June 10, 2020 Researchers who made a knock-in mouse-model of the genetic disorder retinitis pigmentosa 59, or RP59,...
Jun 9, 2020
Approaches to Characterize novel pathogenic missense Variants in PRPF31
RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.
Mar 21, 2020
Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa
Sujun Li , Shyamtanu Datta , Emily Brabbit , Zoe Love , Victoria Woytowicz , Kyle Flattery , Jessica Capri , Katie Yao , Siqi Wu ,...
Mar 2, 2020
Gene therapy to halt rare form of sight loss
The gene therapy is for patients who have retinal dystrophy as a result of inheriting a faulty copy of the RPE65 gene from both parents.
Feb 16, 2020
The effect of human gene therapy for RPE65-associated Leber’s congenital amaurosis on visual function: a systematic review and meta-analysis
This study aims to evaluate the association between changes in visual function and application of gene therapy in patients with RPE65-LCA.
Feb 14, 2020
CRISPR start, RP first, 50-year case
By Keng Jin Lee and Kanaga Rajan
Published JAN 31, 2020
Jan 31, 2020
USH2A Gene in Retinitis Pigmentosa: A Tale of Three Patients
By Patricia C Sanchez Diaz, DVM, PhD, FAAO Purpose This report aims to illustrate the impact of genetic testing in the diagnosis and...
Dec 31, 2019
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
Retinal phenotypes of six BVMD patients with different BEST1 mutations.
Dec 13, 2019
Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
Zhimeng Zhang, Hehua Dai, Lei Wang, Tianchang Tao, Jing Xu, Xiaowei Sun, Liping Yang, Genlin Li | BMC Ophthalmology | Vol. 19, Article #...
Nov 27, 2019
At a glance: Retinitis Pigmentosa
National Eye Institute (NEI)
Last updated: July 10, 2019
Jul 9, 2019
Retinitis pigmentosa caused by variants in SNRNP200
SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP).
Jun 30, 2019
Dominant ARL3-related retinitis pigmentosa
Study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa.
Mar 31, 2019
Retinitis Pigmentosa and Allied Disorders
From such work, a “multiprotein scaffold complex” model has been proposed for harmonin, whirlin, and sans.
Dec 15, 2018
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector
For arRP and X-linked retinal degenerations, significant progress has been achieved in the field of gene therapy as evidenced by . . .
Aug 19, 2018
Long-term Rescue of Photoreceptors in a Rodent Model of Retinitis Pigmentosa Associated with MERTK Mutation
The long-term preservation of photoreceptors observed indicates that MERTK-related inherited retinal degeneration, with currently no cure,
Jul 26, 2018
Understanding the molecular mechanisms underlying retina degeneration in INPP5E-Joubert Syndrome
Our goal is to identify the onset of degeneration and devise gene-based therapies to ameliorate or cure the retina disease.
Jul 14, 2018
ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
The current study focused on the cilia-specific role for ARL2BP in photoreceptor cells.
Jun 30, 2018
Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene
The natural history of this individual’s RP is consistent with previously described MAK mutations, being significantly milder than the . . .
May 20, 2018
All Posts
bottom of page