Open AccessLEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED
Author(s) -
Bart P. Leroy,
David G. Birch,
Jacque L. Duncan,
Byron L. Lam,
Robert K. Koenekoop,
Fernanda Belga Ottoni Porto,
Stephen R. Russell,
Aniz Girach
Publication year - 2021
Publication title -
retina
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.24
H-Index - 120
eISSN - 1539-2864
pISSN - 0275-004X
DOI - 10.1097/iae.0000000000003133
Subject(s) - medicine , quality of life (healthcare) , disease , pediatrics , visual impairment , clinical trial , blindness , stargardt disease , intensive care medicine , bioinformatics , macular degeneration , ophthalmology , biology , optometry , psychiatry , nursing
Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited retinal disease that often results in severe visual impairment or blindness in early childhood. Currently, there are no approved treatments, highlighting the considerable unmet medical need associated with LCA10. We aimed to review the clinical characteristics of LCA10, its impact on patients and society, and the investigational treatment strategies currently in development.