Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
RB Hufnagel, G Arno, ND Hein, J Hersheson… - Journal of medical …, 2015 - jmg.bmj.com
Background Oliver–McFarlane syndrome is characterised by trichomegaly, congenital
hypopituitarism and retinal degeneration with choroidal atrophy. Laurence–Moon syndrome …
hypopituitarism and retinal degeneration with choroidal atrophy. Laurence–Moon syndrome …
Perifoveal chorioretinal atrophy after subretinal voretigene neparvovec-rzyl for RPE65-mediated leber congenital amaurosis
WS Gange, RA Sisk, CG Besirli, TC Lee… - Ophthalmology …, 2022 - Elsevier
Purpose To report an anatomic change following subretinal injection of voretigene
neparvovec-rzyl (VN) for RPE65-mediated Leber congenital amaurosis. Design Multicenter …
neparvovec-rzyl (VN) for RPE65-mediated Leber congenital amaurosis. Design Multicenter …
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of
cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused …
cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused …
Visual and anatomic outcomes with or without surgery in persistent fetal vasculature
PURPOSE: To determine visual and anatomic outcomes for patients with persistent fetal
vasculature (PFV) observed or treated with surgery. DESIGN: Retrospective interventional …
vasculature (PFV) observed or treated with surgery. DESIGN: Retrospective interventional …
Gene therapy for Leber congenital amaurosis: advances and future directions
RB Hufnagel, ZM Ahmed, ZM Corrêa… - Graefe's archive for clinical …, 2012 - Springer
Background Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that results
in significant and often severe vision loss at an early age. Comprehensive analysis of the …
in significant and often severe vision loss at an early age. Comprehensive analysis of the …
[HTML][HTML] Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
SJ Garnai, ML Brinkmeier, B Emery, TS Aleman… - PLoS …, 2019 - journals.plos.org
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes
with relatively normal anatomy, a high hyperopic refractive error, and frequent association …
with relatively normal anatomy, a high hyperopic refractive error, and frequent association …
Intravitreal methotrexate infusion for proliferative vitreoretinopathy
Purpose The purpose of this study was to evaluate intravitreal methotrexate infusion (IMI)
during pars plana vitrectomy (PPV) for retinal detachment in patients with high risk for the …
during pars plana vitrectomy (PPV) for retinal detachment in patients with high risk for the …
Combined phacoemulsification and sutureless 23-gauge pars plana vitrectomy for complex vitreoretinal diseases
Background To evaluate the safety and visual outcomes of combined phacoemulsification
and sutureless 23-gauge vitrectomy for concomitant cataract and vitreoretinal diseases …
and sutureless 23-gauge vitrectomy for concomitant cataract and vitreoretinal diseases …
Visual acuity, retinal morphology, and patients' perceptions after voretigene neparovec-rzyl therapy for RPE65-associated retinal disease
JD Sengillo, NZ Gregori, RA Sisk, CY Weng… - Ophthalmology …, 2022 - Elsevier
Objective To explore the effect of patients' age, baseline visual acuity (VA), and
intraoperative foveal detachment on outcomes of subretinal voretigene neparvovec-rzyl …
intraoperative foveal detachment on outcomes of subretinal voretigene neparvovec-rzyl …
Immediate sequential bilateral pediatric vitreoretinal surgery: an international multicenter study
Y Yonekawa, WC Wu, S Kusaka, J Robinson… - Ophthalmology, 2016 - Elsevier
Purpose To determine the feasibility and safety of bilateral simultaneous vitreoretinal
surgery in pediatric patients. Design International, multicenter, interventional, retrospective …
surgery in pediatric patients. Design International, multicenter, interventional, retrospective …