Researchers have identified new drug targets for therapies that could benefit patients with different forms of retinitis ...
World Sight Day aims to raise awareness of vision impairment and blindness, and promote eye care. Read more at ...
"These findings highlight the importance of providing genetic testing to our patients with retinal dystrophy, and the value of the clinic and lab working together to better understand retinal ...
In a small study of six unrelated participants, researchers linked the gene UBAP1L to different forms of retinal dystrophies, with issues affecting the macula, the part of the eye used for central ...
The bottom line is, as soon as you see a patient with inherited retinal dystrophy, retinitis pigmentosa, or Leber's, we do the genetic testing, and if it confirms the mutation of RPE165 ...
In people with epilepsy, progression of retinal neuroaxonal loss is detectable at short-term follow-up, according to a study ...
Christine N. Kay, MD, discussed her presentation, "Deuterated vitamin A preserves vision in Stargardt’s disease (TEASE study) ...
The phase 1/2 trial involving individuals with RLBP1-associated retinal dystrophy showed that subretinal administration of a functional RLBP1 copy using an adeno-associated viral vector resulted ...
An international team of researchers has identified new drug targets for therapies that could benefit patients with different ...
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmology , 2024; DOI: 10.1001/jamaophthalmol.2024.3836 Cite This Page : ...
The study represents significant progress in understanding how the proteome may change in different retinal dystrophies. Published in Molecular & Cellular Proteomics, the study was carried out by ...