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المؤلفون: Kruijt CC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands. c.c.kruijt@lumc.nl.; Department of Ophthalmology, Leiden University Medical Center, J3-S, Albinusdreef 2, P.O. Box 9600, 2300 RC, Leiden, The Netherlands. c.c.kruijt@lumc.nl., de Wit GC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands., van Minderhout HM; Department of Ophthalmology, Medical Center Haaglanden, The Hague, The Netherlands., Schalij-Delfos NE; Department of Ophthalmology, Leiden University Medical Center, J3-S, Albinusdreef 2, P.O. Box 9600, 2300 RC, Leiden, The Netherlands., van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: Scientific reports [Sci Rep] 2024 Mar 30; Vol. 14 (1), pp. 7572. Date of Electronic Publication: 2024 Mar 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Albinism, Ocular*/diagnosis , Albinism, Ocular*/genetics , Albinism, Oculocutaneous*/diagnosis , Albinism, Oculocutaneous*/genetics , Nystagmus, Pathologic* , Hypopigmentation*, Humans ; Retina ; Mutation ; Vision Disorders

المؤلفون: Talsma HE; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands., Kruijt CC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., de Wit GC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands., Zwerver SHL; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 Dec 01; Vol. 64 (15), pp. 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Eye Abnormalities* , Albinism, Oculocutaneous*/complications , Albinism, Oculocutaneous*/diagnosis , Nystagmus, Pathologic*/diagnosis , Albinism*, Humans ; Fovea Centralis/abnormalities ; Tomography, Optical Coherence/methods ; Vision Disorders ; Visual Acuity

المؤلفون: de Wit GC

المصدر: Optometry and vision science : official publication of the American Academy of Optometry [Optom Vis Sci] 2023 Apr 01; Vol. 100 (4), pp. 271-275. Date of Electronic Publication: 2023 Mar 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8904931 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-9235 (Electronic) Linking ISSN: 10405488 NLM ISO Abbreviation: Optom Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Data Display* , Liquid Crystals*, Humans ; Contrast Sensitivity ; Computers ; Vision Tests ; Calibration

المؤلفون: Kruijt CC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Bergen AA; Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands.; The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, The Netherlands.; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands., Florijn RJ; Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands., Arveiler B; Maladies Rares: Génétique et Métabolisme (MRGM), Inserm U1211, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Zanlonghi X; Centre de Compétence Maladie Rares, Clinique Pluridisciplinaire Jules Verne, Nantes, France., Bagdonaite-Bejarano L; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States., Yahalom C; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel., Blumenfeld A; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel., Perez Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.; Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel., de Wit GC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands., Schalij-Delfos NE; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2022 Jan 03; Vol. 63 (1), pp. 19.

نوع المنشور: Comparative Study; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , Visual Acuity*, Albinism, Oculocutaneous/*genetics , Amino Acid Transport Systems, Neutral/*genetics , Anterior Eye Segment/*abnormalities , DNA/*genetics, Adolescent ; Adult ; Aged ; Albinism, Oculocutaneous/diagnosis ; Albinism, Oculocutaneous/metabolism ; Amino Acid Transport Systems, Neutral/metabolism ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Fovea Centralis/abnormalities ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Retrospective Studies ; Syndrome ; Young Adult

SCR Disease Name: Dilution, Pigmentary