Journal article
Leber congenital amaurosis due to CEP290mutations—severe vision impairment with a high unmet medical need: A Review
Retina (Philadelphia, Pa.), Vol.41(5), pp.898-907
05/2021
DOI: 10.1097/IAE.0000000000003133
PMID: 33595255
Abstract
Supplemental Digital Content is Available in the Text.
In this article, we review the clinical characteristics of Leber congenital amaurosis due to
CEP290
mutations (LCA10) and its impact on patients and society. We discuss the challenges associated with differential diagnosis of LCA10, the significant burden of childhood visual impairment, and the investigational treatment strategies currently in development.
Details
- Title: Subtitle
- Leber congenital amaurosis due to CEP290mutations—severe vision impairment with a high unmet medical need: A Review
- Creators
- Bart P Leroy - Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, BelgiumDavid G Birch - Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaJacque L Duncan - Department of Ophthalmology, University of California, San Francisco, San Francisco, CaliforniaByron L Lam - University of MiamiRobert K Koenekoop - Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaFernanda B. O PortoStephen R Russell - University of Iowa, Ophthalmology and Visual SciencesAniz Girach - ProQR Therapeutics, Leiden, the Netherlands
- Resource Type
- Journal article
- Publication Details
- Retina (Philadelphia, Pa.), Vol.41(5), pp.898-907
- DOI
- 10.1097/IAE.0000000000003133
- PMID
- 33595255
- NLM abbreviation
- Retina
- ISSN
- 0275-004X
- eISSN
- 1539-2864
- Publisher
- Retina
- Language
- English
- Date published
- 05/2021
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9984187014302771
Metrics
26 Record Views