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

Author:

Chung Daniel C.,Bertelsen Mette,Lorenz Birgit,Pennesi Mark E.,Leroy Bart P.,Hamel Christian P.,Pierce Eric,Sallum JulianaORCID,Larsen Michael,Stieger Knut,Preising Markus,Weleber RichardORCID,Yang Paul,Place Emily,Liu Emily,Schaefer Grace,DiStefano-Pappas Julie,Elci Okan U.,McCague Sarah,Wellman Jennifer A.,High Katherine A.,Reape Kathleen Z.

Funder

Spark Therapeutics, Inc

Foundation Fighting Blindness

Research to Prevent Blindness

NIH

Publisher

Elsevier BV

Subject

Ophthalmology

Reference13 articles.

1. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations;Lorenz;Invest Ophthalmol Vis Sci,2000

2. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation;Lorenz;Invest Ophthalmol Vis Sci,2008

3. Visual acuity measurements;Holladay;J Cataract Refract Surg,2004

4. Resolving the clinical acuity categories “hand motion” and “counting fingers” using the Freiburg Visual Acuity Test (FrACT);Lange;Graefes Arch Clin Exp Ophthalmol,2009

5. Novel mobility test to assess functional vision in patients with inherited retinal dystrophies;Chung;Clin Exp Ophthalmol,2018

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