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

Guides to the Evaluation of Permanent Impairment

JAMA · 1971 · 795 citations

Medicine, Health Sciences, Functional Assessment +8

Resolving the clinical acuity categories “hand motion” and “counting fingers” using the Freiburg Visual Acuity Test (FrACT)

Clemens Lange, Nicolas Feltgen, Bernd Junker et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 2008 · 629 citations

Medicine, Ophthalmology, Vision Science +10

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Debra A. Thompson, P Gyürüs, L L Fleischer et al. · PubMed · 2000 · 254 citations

Medicine, Genetics, Molecular Genetics +17

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.

Birgit Lorenz, P Gyürüs, Markus N. Preising et al. · PubMed · 2000 · 197 citations

Medicine, Genetics, Ophthalmology +17

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65

Birgit Lorenz, Bettina Wabbels, Erika Wegscheider et al. · Ophthalmology · 2004 · 167 citations

Medicine, Genetics, Ophthalmology +14