Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

Long-term Follow-up of Patients With Retinitis Pigmentosa Receiving Intraocular Ciliary Neurotrophic Factor Implants

(2016) David G. Birch et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Mutations in human IFT140 cause non-syndromic retinal degeneration

(2015) Mingchu Xu et al.   HUMAN GENETICS

A NovelKCNJ13Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

(2015) Bikash R. Pattnaik et al.   HUMAN MUTATION

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

(2015) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

(2015) Hendrik P. N. Scholl et al.   PLoS One

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

(2014) E R Burnight et al.   GENE THERAPY

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

(2014) Aiden Eblimit et al.   HUMAN MOLECULAR GENETICS

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

(2014) Robert K Koenekoop et al.   LANCET

Cluap1 localizes preferentially to the base and tip of cilia and is required for ciliogenesis in the mouse embryo

(2013) Yanick Botilde et al.   DEVELOPMENTAL BIOLOGY

RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12

(2013) L. L. Molday et al.   HUMAN MOLECULAR GENETICS

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

(2013) Francesco Testa et al.   OPHTHALMOLOGY

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

(2012) Timothy R. Stowe et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

(2012) Rob WJ Collin et al.   Molecular Therapy-Nucleic Acids

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

(2011) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High Temperature Requirement Factor A1 (HTRA1) Gene Regulates Angiogenesis through Transforming Growth Factor-β Family Member Growth Differentiation Factor 6

(2011) Li Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

(2011) Karsten Boldt et al.   JOURNAL OF CLINICAL INVESTIGATION

Replacement Gene Therapy with a Human RPGRIP1 Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis

(2010) Basil S. Pawlyk et al.   HUMAN GENE THERAPY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

SuccessfulRPE65Gene Replacement and Improved Visual Function in Humans

(2008) Robert K. Koenekoop   OPHTHALMIC GENETICS

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH