LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review

Bart P Leroy; David G Birch; Jacque L Duncan; Byron L Lam; Robert K Koenekoop; Fernanda B. O Porto; Stephen R Russell; Aniz Girach

doi:10.1097/IAE.0000000000003133

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LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review

Journal article

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LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review

Bart P Leroy, David G Birch, Jacque L Duncan, Byron L Lam, Robert K Koenekoop, Fernanda B. O Porto, Stephen R Russell and Aniz Girach

Retina (Philadelphia, Pa.), Vol.41(5), pp.898-907

2021-05

DOI: https://doi.org/10.1097/IAE.0000000000003133

PMID: 33595255

Abstract

c2991+1655A>G

CEP290

childhood blindness

ciliopathy

cone-rod dystrophy

inherited retinal disease

LCA10

Leber congenital amaurosis

Review

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.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.36 Ophthalmology; 1.36.212 Retina
Web Of Science research areas: Ophthalmology
ESI research areas: Clinical Medicine

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Title: LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED
Creators: Bart P Leroy - Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium
David G Birch - Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
Jacque L Duncan - Department of Ophthalmology, University of California, San Francisco, San Francisco, California
Byron L Lam - Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
Robert K Koenekoop - Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
Fernanda B. O Porto - Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
Stephen R Russell - The University of Iowa Institute for Vision Research, University of Iowa, Iowa City, Iowa; and
Aniz Girach - ProQR Therapeutics, Leiden, the Netherlands
Publication Details: Retina (Philadelphia, Pa.), Vol.41(5), pp.898-907
Publisher: Retina
Academic Unit: Miller School of Medicine; UMMG Department of Ophthalmology
Language: English
Resource Type: Journal article
PMID: 33595255
Record Identifier: 991031614455202976