Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+11655A > G Mutation in CEP290

Autor: Valkenburg, D, Van Cauwenbergh, C, Lorenz, B, van Genderen, MM, Bertelsen, M, Pott, JWR, Coppieters, F, de Zaeytijd, J, Thiadens, Alberta, Klaver, Caroline, Kroes, HY, van Schooneveld, MJ, Preising, M, Hoyng, CB, Leroy, BP, van den Born, LI, Collin, RWJ

Publikováno v: Investigative ophthalmology & visual science, 59(11), 4384-4391. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science, 59(11), 4384-4391. Association for Research in Vision and Ophthalmology Inc.

Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients. Methods: Medical records were reviewed for best-cor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::429fee8cc61cdf454e20b62f3349544b
https://research.rug.nl/en/publications/f5244a69-f673-4271-b231-e90826dca1a6

Cyclic esotropia: V-pattern and upshoot in adduction

Autor: Pott, JWR, Godts, D, de Faber, JTHN, DeFaber, JT

Publikováno v: PROGRESS IN STRABISMOLOGY, 311-314
STARTPAGE=311;ENDPAGE=314;TITLE=PROGRESS IN STRABISMOLOGY

Three patients with cyclic esotropia are described. In all upshoot in adduction developed in the, course of the disease, and in two of the patients a V-pattern was noticed. In two of these cases the strabismus was addresses by surgery on the horizont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::2afb036e0604be748355c0a5aac89710
https://research.rug.nl/en/publications/a9ca3b1a-4b32-45fe-b9c0-d65e305c5f60

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