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 …

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 …

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

AV Cideciyan, RB Hufnagel, J Carroll… - Human gene …, 2013 - liebertpub.com
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 …

Visual and anatomic outcomes with or without surgery in persistent fetal vasculature

RA Sisk, AM Berrocal, WJ Feuer, TG Murray - Ophthalmology, 2010 - Elsevier
PURPOSE: To determine visual and anatomic outcomes for patients with persistent fetal
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 …

[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 …

Intravitreal methotrexate infusion for proliferative vitreoretinopathy

A Sadaka, RA Sisk, JM Osher, O Toygar… - Clinical …, 2016 - Taylor & Francis
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 …

Combined phacoemulsification and sutureless 23-gauge pars plana vitrectomy for complex vitreoretinal diseases

RA Sisk, TG Murray - British Journal of Ophthalmology, 2010 - bjo.bmj.com
Background To evaluate the safety and visual outcomes of combined phacoemulsification
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 …

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 …