Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient with RPE65Associated Leber’s Congenital Amaurosis

Rehan M. Hussain, Kimberly D. Tran, Audina M. Berrocal, Albert M. Maguire

Research output: Contribution to journalArticle

Abstract

Leber’s congenital amaurosis (LCA) is a rare inherited retinal degeneration (IRD) that causes severe vision loss, nyctalopia, and nystagmus within the first few years of life. RPE65 gene mutations cause approximately 6% of LCA cases and have become the target for therapy since voretigene neparvovec-rzyl became the first U.S. Food and Drug Administrationapproved gene therapy product for IRDs in 2017. The surgery involves pars plana vitrectomy with subretinal injection of a viral vector that carries a functional copy of the RPE65 gene. Intraoperative optical coherence tomography is a useful adjunctive tool to confirm the injection has reached the subretinal space.

Original languageEnglish (US)
Pages (from-to)661-663
Number of pages3
JournalOphthalmic Surgery Lasers and Imaging Retina
Volume50
Issue number10
DOIs
StatePublished - Jan 1 2019
Externally publishedYes

Fingerprint

Leber Congenital Amaurosis
Night Blindness
Retinal Degeneration
Injections
Temazepam
Vitrectomy
Optical Coherence Tomography
Genetic Therapy
Genes
Food
Mutation
Pharmaceutical Preparations
Therapeutics

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

Cite this

Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient with RPE65Associated Leber’s Congenital Amaurosis. / Hussain, Rehan M.; Tran, Kimberly D.; Berrocal, Audina M.; Maguire, Albert M.

In: Ophthalmic Surgery Lasers and Imaging Retina, Vol. 50, No. 10, 01.01.2019, p. 661-663.

Research output: Contribution to journalArticle

@article{8baaddd3e40949f08383972a310549f9,
title = "Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient with RPE65Associated Leber’s Congenital Amaurosis",
abstract = "Leber’s congenital amaurosis (LCA) is a rare inherited retinal degeneration (IRD) that causes severe vision loss, nyctalopia, and nystagmus within the first few years of life. RPE65 gene mutations cause approximately 6{\%} of LCA cases and have become the target for therapy since voretigene neparvovec-rzyl became the first U.S. Food and Drug Administrationapproved gene therapy product for IRDs in 2017. The surgery involves pars plana vitrectomy with subretinal injection of a viral vector that carries a functional copy of the RPE65 gene. Intraoperative optical coherence tomography is a useful adjunctive tool to confirm the injection has reached the subretinal space.",
author = "Hussain, {Rehan M.} and Tran, {Kimberly D.} and Berrocal, {Audina M.} and Maguire, {Albert M.}",
year = "2019",
month = "1",
day = "1",
doi = "10.3928/23258160-20191009-01",
language = "English (US)",
volume = "50",
pages = "661--663",
journal = "Ophthalmic Surgery Lasers and Imaging Retina",
issn = "2325-8160",
publisher = "Slack Incorporated",
number = "10",

}

TY - JOUR

T1 - Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient with RPE65Associated Leber’s Congenital Amaurosis

AU - Hussain, Rehan M.

AU - Tran, Kimberly D.

AU - Berrocal, Audina M.

AU - Maguire, Albert M.

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Leber’s congenital amaurosis (LCA) is a rare inherited retinal degeneration (IRD) that causes severe vision loss, nyctalopia, and nystagmus within the first few years of life. RPE65 gene mutations cause approximately 6% of LCA cases and have become the target for therapy since voretigene neparvovec-rzyl became the first U.S. Food and Drug Administrationapproved gene therapy product for IRDs in 2017. The surgery involves pars plana vitrectomy with subretinal injection of a viral vector that carries a functional copy of the RPE65 gene. Intraoperative optical coherence tomography is a useful adjunctive tool to confirm the injection has reached the subretinal space.

AB - Leber’s congenital amaurosis (LCA) is a rare inherited retinal degeneration (IRD) that causes severe vision loss, nyctalopia, and nystagmus within the first few years of life. RPE65 gene mutations cause approximately 6% of LCA cases and have become the target for therapy since voretigene neparvovec-rzyl became the first U.S. Food and Drug Administrationapproved gene therapy product for IRDs in 2017. The surgery involves pars plana vitrectomy with subretinal injection of a viral vector that carries a functional copy of the RPE65 gene. Intraoperative optical coherence tomography is a useful adjunctive tool to confirm the injection has reached the subretinal space.

UR - http://www.scopus.com/inward/record.url?scp=85074396422&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85074396422&partnerID=8YFLogxK

U2 - 10.3928/23258160-20191009-01

DO - 10.3928/23258160-20191009-01

M3 - Article

C2 - 31671202

AN - SCOPUS:85074396422

VL - 50

SP - 661

EP - 663

JO - Ophthalmic Surgery Lasers and Imaging Retina

JF - Ophthalmic Surgery Lasers and Imaging Retina

SN - 2325-8160

IS - 10

ER -