CEP290-related retinal degeneration describes types of inherited eye disorders caused by caused by the common intron 26 mutation in CEP290, including Leber congenital amaurosis.
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy.
United States, Florida
Bascom Palmer Eye Institute, Miami, Florida, United States, 33136
United States, Massachusetts
Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States, 02114
United States, Michigan
W.K. Kellogg Eye Center, Ann Arbor, Michigan, United States, 48105
United States, Oregon
Casey Eye Institute - OHSU, Portland, Oregon, United States, 97239
France
Universite Pierre et Marie Curie, Paris, France, 75252
Germany
Universitaetsklinikum Giessen and Marburg GmbH, Giessen, Germany, 35392
Netherlands
Radboud Universitair Medisch Centrum, Nijmegen, Gelderland, Netherlands, 6525
Status: Completed
Description
The purpose of the study is to describe the natural history of CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation and to better understand the best assessments for evaluation of patients with this condition in a future interventional trial. Patients meeting the entry criteria will be enrolled in the study. Visits will occur at Screening, Baseline, and Months 3, 6, and 12, for a total duration of 1 year.
Last updated: Sep. 1, 2024