Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34. [PDF]
PLoS ONE, 2017 Peripherin (peripherin/rds) is a membrane-associated protein that plays a critical role in the morphogenesis of rod and cone photoreceptor outer segments.
Ayse Sahaboglu +5 more
doaj +1 more source
Negative regulation of the novel norpA(P24) suppressor, diehard4, in the endo-lysosomal trafficking underlies photoreceptor cell degeneration. [PDF]
PLoS Genetics, 2013 Rhodopsin has been used as a prototype system to investigate G protein-coupled receptor (GPCR) internalization and endocytic sorting mechanisms. Failure of rhodopsin recycling upon light activation results in various degenerative retinal diseases ...
Jongwoo Lee +2 more
doaj +1 more source
Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies
Ophthalmology and Therapy, 2020 Inherited retinal dystrophies (IRD) are a heterogeneous group of rare chronic disorders caused by genetically determined degeneration of photoreceptors and retinal pigment epithelium cells.
Maria Vittoria Cicinelli +5 more
doaj +1 more source
Oxidative Stress as a Main Contributor of Retinal Degenerative Diseases
Antioxidants, 2022 Retinal degenerative diseases, including inherited retinal dystrophies (IRDs) and acquired multifactorial diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR) or ganglion cell damage secondary to glaucoma or other ...
Isabel Pinilla, Victoria Maneu
doaj +1 more source
Clinical trials in retinal dystrophies
Middle East African Journal of Ophthalmology, 2016 Research development is burgeoning for genetic and cellular therapy for retinal dystrophies. These dystrophies are the focus of many research efforts due to the unique biology and accessibility of the eye, the transformative advances in ocular imaging technology that allows for in vivo monitoring, and the potential benefit people would gain from ...
Grob, Seanna R. +3 more
openaire +3 more sources
Gene panel sequencing in Brazilian patients with retinitis pigmentosa
International Journal of Retina and Vitreous, 2017 Background Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a ...
Kárita Antunes Costa +4 more
doaj +1 more source
Emerging Drug Therapies for Inherited Retinal Dystrophies
, 2020 Worldwide, 1 in 2000 people suffer from inherited retinal dystrophies (IRD). Individuals with IRD typically present with progressive vision loss that ultimately results in blindness. Unfortunately, effective treatment options are not widely available due
Sundaramurthi, Husvinee
core +1 more source
Optical Coherence Tomography Angiography in CRB1-Associated Retinal Dystrophies [PDF]
, 2023 Aim of the study: To report optical coherence tomography angiography (OCTA) findings in patients affected by CRB1-associated retinal dystrophies. Method: Patients affected by a genetically confirmed CRB1-associated retinal dystrophy were prospectively ...
Arrigo, Alessandro +17 more
core +1 more source
Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia
Clinical and Experimental Optometry, EarlyView., 2020 Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood +6 more
wiley +1 more source