Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E

Kollu N. Rao,  Wei Zhang,  Linjing Li,  Manisha Anand,  Hemant Khanna

Human Molecular Genetics, Volume 25, Issue 20, 15 October 2016, Pages 4533 - 4545, 


Gene Mutations Causing 

Retinitis Pigmentosa

S.P. Daiger, L.S. Sullivan & S.J. Browne

A Eureka Moment for Paul Yang Boosts Advancement of Vision-Saving RP Drug

Paul Yang, MD, PhD / Feb 17, 2021/

Eye on the Cure Research News, Foundation Fighting Blindness

Vision loss for many people with RP and other inherited retinal degenerations is caused by the accumulation of a molecule called cyclic guanosine monophosphate (cGMP). While cGMP is an important messenger molecule for converting light into electrical signals in the retina, too much of it is toxic. Mycophenolate can help regulate cGMP, thereby reducing the toxic accumulation.

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

Melissa C. Humbert, Katie Weihbrecht, Charles C. Searby, Yalan Li, Robert M. Pope, Val C. Sheffield, and Seongjin Seo, PNAS November 27, 2012 109 (48) 19691-19696; 


Encouraging news for treatment targeting retinitis pigmentosa

Kevin McCormack / July 29, 2020 /

The Official Blog of CIRM, California's Stem Cell Agency

"While most people probably wouldn’t put 2020 in their list of favorite years, it’s certainly turning out to be a good one for jCyte. Earlier this year jCyte entered into a partnership with global ophthalmology company Santen Pharmaceuticals worth up to $252 million. Then earlier this week they announced some encouraging results from their Phase 2b clinical trial."

A liquid retinal prosthesis

Horejs, C. A liquid retinal prosthesis. Nat Rev Mater 5, 559 (2020). https://doi.org/10.1038/s41578-020-0226-9

In retinal degenerative diseases, such as age-related macular degeneration and retinitis pigmentosa, the progressive loss of photoreceptors in the retina ultimately leads to loss of vision. Now, as they report in Nature Nanotechnology, Fabio Benfenati, Guglielmo Lanzani and colleagues developed a liquid retinal prosthesis made of photoactive semiconducting polymer nanoparticles that can be directly injected into the eye to functionally replace damaged photoreceptors and restore visual acuity with high spatial resolution.

The Joubert Syndrome Protein INPP5E Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane

Wenyan Xu, Miaomiao Jin, Ruikun Hu, Hong Wang, Fan Zhang, Shiaulou Yuan and Ying Cao

JASN January 2017,  28 (1) 118-129;



Understanding the molecular mechanisms underlying retina degeneration in INPP5E-Joubert Syndrome

Ali Sakawa Sharif, Christin Hanke-Gogokhia, Jeanne M Frederick, Wolfgang Baehr;

Invest. Ophthalmol. Vis. Sci. 2018;59(9):3068.

Mutations in INPP5E are associated with Joubert syndrome and MORM disease (mental retardation, truncal obesity, retinal dystrophy and micropenis). Joubert syndrome is a syndromic ciliopathy that includes ataxia, hyperpnea, abnormal eye and tongue movements, polydactyly and retinitis pigmentosa. To date, the function of INPP5E is unclear. 

RP Treatment Derived from Induced Pluripotent Stem Cells Advances into Clinical Trial

Shinya Yamanaka, MD, PhD; David Gamm, MD, PhD / Oct 16, 2020 / Japan Times


Clinical researchers from Kobe City Eye Hospital in Japan have performed the world’s first transplant of photoreceptors derived from induced pluripotent stem cells (iPSC)into the eye of a person with retinitis pigmentosa (RP). The primary goal of the clinical trial is to assess safety of the potential therapy.