The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

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The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJO.2018.09.024
P932PMC publication ID6445969
P698PubMed publication ID30268864

P50authorKatherine A. HighQ41502889
Juliana M F SallumQ81446582
P2093author name stringBart P Leroy
Daniel C Chung
Christian P Hamel
Emily Liu
Birgit Lorenz
Michael Larsen
Emily Place
Paul Yang
Okan U Elci
Mette Bertelsen
Mark E Pennesi
Knut Stieger
Markus Preising
Kathleen Z Reape
Richard Weleber
Eric Pierce
Julie DiStefano-Pappas
Sarah McCague
Jennifer A Wellman
Grace Schaefer
P2860cites workLack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.Q30765474
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutationQ37241257
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic TrialsQ38659194
Resolving the clinical acuity categories "hand motion" and "counting fingers" using the Freiburg Visual Acuity Test (FrACT).Q40051827
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.Q40736925
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutationsQ45163699
Novel mobility test to assess functional vision in patients with inherited retinal dystrophiesQ48143937
The natural history of Leber's congenital amaurosis. Age-related findings in 35 patientsQ68081738
Vision in Leber congenital amaurosisQ71098155
Early-onset severe rod-cone dystrophy in young children with RPE65 mutationsQ74150962
Visual acuity measurementsQ79797879
P407language of work or nameEnglishQ1860
P304page(s)58-70
P577publication date2018-09-28
P1433published inAmerican Journal of OphthalmologyQ4744258
P1476titleThe Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
P478volume199

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cites work (P2860)
Q89604802An Economic Evaluation of Voretigene Neparvovec for the Treatment of Biallelic RPE65-Mediated Inherited Retinal Dystrophies in the UK
Q104076002Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy
Q91986136Cost-effectiveness of Voretigene Neparvovec-rzyl vs Standard Care for RPE65-Mediated Inherited Retinal Disease
Q90681476Development and Clinical Translation of Approved Gene Therapy Products for Genetic Disorders
Q90152961Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
Q92258187Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
Q90258684[Statement of the German Society of Ophthalmology (DOG), the German Retina Society (RG) and the Professional Association of German Ophthalmologists (BVA) on the therapeutic use of voretigene neparvovec-rzyl (Luxturna™) in ophthalmology : Situation J

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