Researchers based at the Institute of Ophthalmology, University College London, have identified a rare gene variant within RDH12, encoded by the retinal dehydrogenase enzyme functioning… Read More »A rare variant in RDH12 has been linked to autosomal dominant retinitis pigmentosa within a four-generation pedigree.
Researchers based at Otto von Guericke University of Magdeburg and the Center of Behavioral Brain Sciences (CBBS), Germany, have reported results on siRNA treatment to… Read More »A novel apoptotic strategy has used siRNA to treat caspase-3 effectors protecting neuronal cells following optic nerve damage
Researchers at the University of Hong Kong have reported that clinicians may need to be aware of special considerations for vulnerable patients with ophthalmic conditions,… Read More »Clinicians consider how COVID19 vaccine rollout may impact outcomes for inflammatory eye disease and autoimmune disorders
Researchers at the Department of Ophthalmology, at the University of Milan, have published the largest molecular study of Italian patients with RP in the literature. … Read More »The largest molecular study of RP in Italy has reported 591 probands with family history and sporadic cases.
A novel research report, published in Ophthalmology Science (Jan. 11th 2021) has identified a genetic association between the MMP9 gene (matrix metalloproteinase-9) and exudative AMD. … Read More »First confirmation of genetic association with MMP9 and exudative age-related macular degeneration (AMD).
Surgical “pearls” of research have been published in the journal, Retina (accessed January 18, 2021), following the completion of 120 subretinal surgeries, performed by a… Read More »Surgical “pearls” point to valuable observations among 120 treatments using subretinal gene therapy for inherited retinal degenerations.
Research on epigenetic transcription factors has shown that a novel study may be applicable for some types of age-related disorders. The cover of Nature, on… Read More »Reprogramming “youthful” epigenetic information shows that restoration of vision in mature eyes may use re-engineered transcription factors
An international multi-centre study comprised of US, French, German, Dutch and Canadian researchers has reported valuable outcomes for a cohort of USH2A patients. The natural… Read More »A longitudinal natural history of USH2A patients, compared with arRP, show valuable outcomes for BCVA, ERG and FST results.
Researchers based in the Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, including a broad international effort of 75 experts, have reported… Read More »Research on ”dark matter” in genomic analysis on ABCA4 gene for Stargardt disease identifies 25% of biallelic cases.
Researchers at the Department of Ophthalmology, Universidade Federal de Sao Paulo, Brazil, have reported on a new clinical study detecting 38 new gene variants among… Read More »Research on Leber congenital amaurosis (LCA) on a Brazilian cohort of 152 patients has identified almost 40 new genetic variants and 4 new complex alleles