دورية أكاديمية
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
| العنوان: | The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. |
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| 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 |
| اللغة: | English |
| 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 |
| أسماء مطبوعة: | Publication: Brookline Ma : Association For Research In Vision And Ophthalmology (Arvo) Original Publication: St. Louis, Mosby. |
| 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 |
| مستخلص: | Purpose: The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome), to describe the phenotypic spectrum, and to compare it to albinism. Subjects and Methods: We retrospectively collected molecular, ophthalmic, and electrophysiological data of 28 patients molecularly confirmed with FHONDA from the Netherlands (9), Israel (13), France (2), and the United States of America (4). We compared the data to that of 133 Dutch patients with the 3 most common types of albinism in the Netherlands: oculocutaneous albinism type 1 (49), type 2 (41), and ocular albinism (43). Results: Patients with FHONDA had a total of 15 different mutations in SLC38A8, of which 6 were novel. Excluding missing data, all patients had moderate to severe visual impairment (median visual acuity [VA] = 0.7 logMAR, interquartile range [IQR] = 0.6-0.8), nystagmus (28/28), and grade 4 foveal hypoplasia (17/17). Misrouting was present in all nine tested patients. None of the patients had any signs of hypopigmentation of skin and hair. VA in albinism was better (median = 0.5 logMAR, IQR = 0.3-0.7, P 0.006) and the phenotypes were more variable: 14 of 132 without nystagmus, foveal hypoplasia grades 1 to 4, and misrouting absent in 16 of 74. Conclusions: Compared to albinism, the FHONDA syndrome appears to have a more narrow phenotypic spectrum, consisting of nonprogressive moderately to severely reduced VA, nystagmus, severe foveal hypoplasia, and misrouting. The co-occurrence of nystagmus, foveal hypoplasia, and misrouting in the absence of hypopigmentation implies that these abnormalities are not caused by lack of melanin, which has important implications for understanding the pathogenesis of these features. |
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| معلومات مُعتمدة: | P50 HD105351 United States HD NICHD NIH HHS |
| المشرفين على المادة: | 0 (Amino Acid Transport Systems, Neutral) 0 (Slc38a8 protein, human) 9007-49-2 (DNA) |
| SCR Disease Name: | Dilution, Pigmentary |
| تواريخ الأحداث: | Date Created: 20220114 Date Completed: 20220218 Latest Revision: 20230317 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC8762694 |
| DOI: | 10.1167/iovs.63.1.19 |
| PMID: | 35029636 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1552-5783 |
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| DOI: | 10.1167/iovs.63.1.19 |