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  1. Book ; Online: Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics

    Lorenz, Birgit / Moore, Anthony T.

    2006  

    Author's details edited by Birgit Lorenz, Anthony T. Moore
    Keywords Neurology ; Nursing ; Ophthalmology ; Pediatrics ; Science (General)
    Language English
    Publisher Springer-Verlag Berlin Heidelberg
    Publishing place Berlin, Heidelberg
    Document type Book ; Online
    HBZ-ID TT050387530
    ISBN 978-3-540-22594-2 ; 978-3-540-31220-8 ; 3-540-22594-3 ; 3-540-31220-X
    DOI 10.1007/3-540-31220-X
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: Genetic Testing for Inherited Retinal Disease.

    Moore, Anthony T

    Ophthalmology

    2017  Volume 124, Issue 9, Page(s) 1254–1255

    Language English
    Publishing date 2017-09
    Publishing country United States
    Document type Editorial
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2017.06.018
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  3. Article ; Online: Optogenetic approaches to therapy for inherited retinal degenerations.

    De Silva, Samantha R / Moore, Anthony T

    The Journal of physiology

    2022  Volume 600, Issue 21, Page(s) 4623–4632

    Abstract: Inherited retinal degenerations such as retinitis pigmentosa (RP) affect around one in 4000 people and are the leading cause of blindness in working age adults in several countries. In these typically monogenic conditions, there is progressive ... ...

    Abstract Inherited retinal degenerations such as retinitis pigmentosa (RP) affect around one in 4000 people and are the leading cause of blindness in working age adults in several countries. In these typically monogenic conditions, there is progressive degeneration of photoreceptors; however, inner retinal neurons such as bipolar cells and ganglion cells remain largely structurally intact, even in end-stage disease. Therapeutic approaches aiming to stimulate these residual cells, independent of the underlying genetic cause, could potentially restore visual function in patients with advanced vision loss, and benefit many more patients than therapies directed at the specific gene implicated in each disorder. One approach investigated for this purpose is that of optogenetics, a method of neuromodulation that utilises light to activate neurons engineered to ectopically express a light-sensitive protein. Using gene therapy via adeno-associated viral vectors, a range of photosensitive proteins have been expressed in remaining retinal cells in advanced retinal degeneration with in vivo studies demonstrating restoration of visual function. Developing an effective optogenetic strategy requires consideration of multiple factors, including the light-sensitive protein that is used, the vector and method for gene delivery, and the target cell for expression because these in turn may affect the quality of vision that can be restored. Currently, at least four clinical trials are ongoing to investigate optogenetic therapies in patients, with the ultimate aim of reversing visual loss in end-stage disease.
    MeSH term(s) Adult ; Humans ; Retinal Degeneration/genetics ; Retinal Degeneration/therapy ; Retinal Degeneration/metabolism ; Optogenetics/methods ; Genetic Therapy/methods ; Vision, Ocular
    Language English
    Publishing date 2022-08-17
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 3115-x
    ISSN 1469-7793 ; 0022-3751
    ISSN (online) 1469-7793
    ISSN 0022-3751
    DOI 10.1113/JP282076
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  4. Article ; Online: Congenital focal abnormalities of the retina and retinal pigment epithelium.

    Liu, Yingna / Moore, Anthony T

    Eye (London, England)

    2020  Volume 34, Issue 11, Page(s) 1973–1988

    Abstract: This paper reviews the published literature on a group of developmental disorders of the retina and retinal pigment epithelium which result in focal abnormalities in one or both eyes. They are often asymptomatic, found on routine examination and are ... ...

    Abstract This paper reviews the published literature on a group of developmental disorders of the retina and retinal pigment epithelium which result in focal abnormalities in one or both eyes. They are often asymptomatic, found on routine examination and are generally non-progressive. Some are associated with other systemic abnormalities.
    MeSH term(s) Humans ; Retina ; Retinal Pigment Epithelium
    Language English
    Publishing date 2020-05-04
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 91001-6
    ISSN 1476-5454 ; 0950-222X
    ISSN (online) 1476-5454
    ISSN 0950-222X
    DOI 10.1038/s41433-020-0902-4
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  5. Article ; Online: Mitochondrial Disorders and the Eye: A New Era for Diagnosis.

    Moore, Anthony T / Yu-Wai-Man, Patrick

    Ophthalmology

    2021  Volume 128, Issue 4, Page(s) 632–633

    MeSH term(s) DNA, Mitochondrial/genetics ; Humans ; Mitochondrial Diseases/diagnosis
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2021-03-12
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2020.12.032
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  6. Article ; Online: Handheld OCT Comes of Age.

    Moore, Anthony T

    Investigative ophthalmology & visual science

    2015  Volume 56, Issue 8, Page(s) 4546

    MeSH term(s) Aging/physiology ; Fovea Centralis/growth & development ; Humans ; Tomography, Optical Coherence
    Language English
    Publishing date 2015-07
    Publishing country United States
    Document type Comment ; Journal Article
    ZDB-ID 391794-0
    ISSN 1552-5783 ; 0146-0404
    ISSN (online) 1552-5783
    ISSN 0146-0404
    DOI 10.1167/iovs.15-17350
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  7. Article ; Online: Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.

    Chirco, Kathleen R / Chew, Shereen / Moore, Anthony T / Duncan, Jacque L / Lamba, Deepak A

    Stem cell reports

    2021  Volume 16, Issue 11, Page(s) 2690–2702

    Abstract: Cases of Leber congenital amaurosis caused by mutations in CRX (LCA7) exhibit an early form of the disease and show signs of significant photoreceptor dysfunction and eventual loss. To establish a translational in vitro model system to study gene-editing- ...

    Abstract Cases of Leber congenital amaurosis caused by mutations in CRX (LCA7) exhibit an early form of the disease and show signs of significant photoreceptor dysfunction and eventual loss. To establish a translational in vitro model system to study gene-editing-based therapies, we generated LCA7 retinal organoids harboring a dominant disease-causing mutation in CRX. Our LCA7 retinal organoids develop signs of immature and dysfunctional photoreceptor cells, providing us with a reliable in vitro model to recapitulate LCA7. Furthermore, we performed a proof-of-concept study in which we utilize allele-specific CRISPR/Cas9-based gene editing to knock out mutant CRX and saw moderate rescue of photoreceptor phenotypes in our organoids. This work provides early evidence for an effective approach to treat LCA7, which can be applied more broadly to other dominant genetic diseases.
    MeSH term(s) Alleles ; Base Sequence ; Cell Line ; Gene Editing/methods ; Gene Expression Profiling/methods ; Genes, Dominant ; Genetic Predisposition to Disease/genetics ; Homeodomain Proteins/genetics ; Homeodomain Proteins/metabolism ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Leber Congenital Amaurosis/genetics ; Leber Congenital Amaurosis/metabolism ; Leber Congenital Amaurosis/pathology ; Microscopy, Electron, Transmission ; Models, Biological ; Mutation ; Organoids/cytology ; Organoids/metabolism ; Organoids/ultrastructure ; Phenotype ; Polymorphism, Single Nucleotide ; RNA-Seq/methods ; Retina/metabolism ; Trans-Activators/genetics ; Trans-Activators/metabolism
    Chemical Substances Homeodomain Proteins ; Trans-Activators ; cone rod homeobox protein
    Language English
    Publishing date 2021-10-14
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2720528-9
    ISSN 2213-6711 ; 2213-6711
    ISSN (online) 2213-6711
    ISSN 2213-6711
    DOI 10.1016/j.stemcr.2021.09.007
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  8. Article ; Online: Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.

    Berry, Vanita / Ionides, Alex / Pontikos, Nikolas / Moore, Anthony T / Quinlan, Roy A / Michaelides, Michel

    Eye (London, England)

    2021  Volume 36, Issue 8, Page(s) 1694–1701

    Abstract: Background: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.: Methods: Using whole ... ...

    Abstract Background: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.
    Methods: Using whole exome sequencing, we identified disease-causing variants in two large British families and one isolated case with autosomal dominant congenital cataract. Bioinformatics analysis confirmed these disease-causing mutations as rare or novel variants, with a moderate to damaging pathogenicity score, with testing for segregation within the families using direct Sanger sequencing.
    Results: Family A had a missense variant (c.184 G>A; p.V62M) in PAX6 and affected individuals presented with nuclear cataract. Family B had a frameshift variant (c.470-477dup; p.A160R*) in PITX3 that was also associated with nuclear cataract. A recurrent missense variant in HSF4 (c.341 T>C; p.L114P) was associated with congenital cataract in a single isolated case.
    Conclusions: We have therefore identified novel variants in PAX6 and PITX3 that cause autosomal dominant congenital cataract.
    MeSH term(s) Cataract/congenital ; Heat Shock Transcription Factors/genetics ; Homeodomain Proteins/genetics ; Humans ; Mutation ; PAX6 Transcription Factor/genetics ; Pedigree ; Transcription Factors/genetics
    Chemical Substances HSF4 protein, human ; Heat Shock Transcription Factors ; Homeodomain Proteins ; PAX6 Transcription Factor ; PAX6 protein, human ; Transcription Factors ; homeobox protein PITX3
    Language English
    Publishing date 2021-08-03
    Publishing country England
    Document type Journal Article
    ZDB-ID 91001-6
    ISSN 1476-5454 ; 0950-222X
    ISSN (online) 1476-5454
    ISSN 0950-222X
    DOI 10.1038/s41433-021-01711-x
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  9. Article ; Online: Intraoperative fluorescein angiography-guided treatment in children with early Coats' disease.

    Suzani, Martina / Moore, Anthony T

    Ophthalmology

    2015  Volume 122, Issue 6, Page(s) 1195–1202

    Abstract: Purpose: To review the anatomic and visual outcomes of a series of children diagnosed with Coats' disease and treated on the basis of intraoperative fluorescein angiography (FA) findings.: Design: Retrospective case series.: Participants: Twenty- ... ...

    Abstract Purpose: To review the anatomic and visual outcomes of a series of children diagnosed with Coats' disease and treated on the basis of intraoperative fluorescein angiography (FA) findings.
    Design: Retrospective case series.
    Participants: Twenty-five children 2 to 15 years of age diagnosed with early Coats' disease and treated after intraoperative FA.
    Methods: Retrospective review of patients who underwent treatment for stage 2 Coats' disease in a tertiary center in the United Kingdom between 2007 and 2012. The children underwent treatment to the telangiectatic vessels and associated areas of retinal nonperfusion identified on intraoperative FA performed with a wide-angle retinal camera (RetCam II).
    Main outcome measures: Anatomic and structural assessment of the retina after treatment, visual acuity (VA), and complications related to treatment.
    Results: Twenty children with Coats' disease who underwent intraoperative RetCam FA and retinal ablative treatment and who had more than 3 months of follow-up were identified from clinical records. All had unilateral disease. Six eyes were classified as stage 2a, and 14 eyes were classified as stage 2b. The median duration of follow-up was 21 months (mean, 26 months). Fifteen eyes needed 1 treatment to stabilize the disease, and 5 eyes needed a second treatment. None of the patients demonstrated progression of the disease to a more severe stage. Twelve eyes had a final VA of 0.4 logarithm of the minimum angle of resolution (logMAR) or better, 6 patients had VA between 0.4 and 1.0 logMAR, and 2 patients had VA worse than 1.0 logMAR.
    Conclusions: The treatment of retinal telangiectasia and areas of retinal nonperfusion identified by wide-angle intraoperative FA in children with stage 2 Coats' disease led to good anatomic outcome, with preservation of VA in most cases.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Cryotherapy/methods ; Female ; Fluorescein Angiography ; Humans ; Intraoperative Period ; Laser Coagulation ; Lasers, Solid-State/therapeutic use ; Male ; Retinal Telangiectasis/classification ; Retinal Telangiectasis/diagnosis ; Retinal Telangiectasis/therapy ; Retrospective Studies ; Tomography, Optical Coherence ; Visual Acuity/physiology
    Language English
    Publishing date 2015-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2015.02.002
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  10. Article ; Online: Retinopathy and optic atrophy in a case of

    Stallworth, Jeannette Y / Blair, David R / Slavotinek, Anne / Moore, Anthony T / Duncan, Jacque L / de Alba Campomanes, Alejandra G

    Ophthalmic genetics

    2022  Volume 44, Issue 5, Page(s) 486–490

    Abstract: Purpose: To describe a case of primary coenzyme Q: Methods: Clinical presentation and workup including visual fields, electroretinogram, and optical coherence tomography are presented. Genetic testing was performed.: Results: An eight-year-old ... ...

    Abstract Purpose: To describe a case of primary coenzyme Q
    Methods: Clinical presentation and workup including visual fields, electroretinogram, and optical coherence tomography are presented. Genetic testing was performed.
    Results: An eight-year-old female with nephropathy requiring renal transplantation subsequently developed progressive cone-rod dystrophy and optic atrophy. The patient had negative results on a targeted next-generation sequencing retinal dystrophy panel but whole-exome sequencing revealed two variants in
    Conclusions: Primary coenzyme Q
    MeSH term(s) Child ; Female ; Humans ; Ubiquinone/therapeutic use ; Ubiquinone/genetics ; Genetic Testing ; Retinal Dystrophies/genetics ; Visual Fields ; Electroretinography ; Optic Atrophy/genetics ; Mutation ; Tomography, Optical Coherence
    Chemical Substances Ubiquinone (1339-63-5)
    Language English
    Publishing date 2022-11-24
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2022.2141792
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