x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
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The molecular map of congenital stationary night blindness – the science of seeing in the dark
A recently published study has provided the first molecular map of the mutation-specific changes that occur in the retina which lead to Congenital Stationary Night Blindness.
Gene Therapy improves functional measures in XLRP
Beacon Therapeutics announced positive results from their phase 2 gene therapy trial for X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene.
Significantly worse vision found in female carriers of X-linked RP and Choroideremia
It was previously believed that female carriers of X-linked inherited retinal diseases (IRDs) like X-linked retinitis pigmentosa (RP and Choroideremia) remained unaffected by sight loss.
SB-007 update: dose-expansion portion of SpliceBio’s phase 1/2 trial underway with first participant dosed at Oxford
SpliceBio has begun the dose-expansion portion of their phase 1/2 clinical trial of SB-007, a dual adeno-associated viral vector gene therapy for Stargardt disease.
Non-coding, but not non-important: the hidden genes behind retinitis pigmentosa
A new study by researchers from Radboud University Medical Centre and the University of Basel has uncovered new genetic causes of Retinitis Pigmentosa (RP) that were once overlooked.
Autosomal dominant inheritance
Autosomal dominant inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that only one faulty copy is needed to cause sight loss.
Disappointing news from ProQR clinical trial for LCA10
ProQR has published the top-line results from its Phase 2/3 “Illuminate” trial of the RNA therapy sepofarsen for Leber congenital amaurosis type 10 caused by a specific mutation in the CEP290 gene.
Research news round-up – Spring 2024
A round-up of the latest research into inherited retinal conditions - February 2024.
From Lab to Clinical Trial: First Healthy Volunteer Dosed with OCT-980
Octant, a clinical stage drug discovery company, has recently announced the dosing of the first healthy volunteer in their Phase 1a clinical trial of OCT-980 for Rhodopsin-associated autosomal dominant Retinitis Pigmentosa (RHO-adRP).