دورية أكاديمية
Optic nerve involvement in CACNA1F -related disease: observations from a multicentric case series.
| العنوان: | Optic nerve involvement in CACNA1F -related disease: observations from a multicentric case series. |
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| المؤلفون: | Marziali E; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Van Den Broeck F; Department of Ophthalmology and Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Bargiacchi S; Medical Genetics Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Fortunato P; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Caputo R; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Sodi A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., De Zaeytijd J; Department of Ophthalmology and Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Murro V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Mucciolo DP; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Giorgio D; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Passerini I; Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., de Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Zeitz C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Leroy BP; Department of Ophthalmology and Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, Inc, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Secci J; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy. |
| المصدر: | Ophthalmic genetics [Ophthalmic Genet] 2023 Apr; Vol. 44 (2), pp. 152-162. Date of Electronic Publication: 2022 Dec 05. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Buren, The Netherlands : Aeolus Press, c1994- |
| مواضيع طبية MeSH: | Night Blindness*/diagnosis , Night Blindness*/genetics , Myopia*/diagnosis , Myopia*/genetics , Retinal Diseases*/genetics, Humans ; Optic Nerve ; Tomography, Optical Coherence ; Calcium Channels, L-Type/genetics |
| مستخلص: | Background: Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or by a delay in adaptation to darkness, as well as by low visual acuity, myopia, nystagmus, and strabismus. Color vision and fundus appearance tend to be normal. To date, several CACNA1F gene variants have been linked to a CSNB phenotype but only few reports have focused on the optic nerve in this disease. Materials and Methods: Twelve patients underwent standard ophthalmological and genetic evaluation including spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), kinetic perimetry, fundus photography, magnetic resonance imaging (MRI), and next-generation sequencing (NGS). Bilateral thinning of the peripapillary nerve fiber layer (pRNFL) and the ganglion cell complex (GCC) supported involvement of the optic nerves. MRI, when available, was assessed for gross intracranial optic pathway abnormalities. Results: All patients were shown to carry pathogenic variants in the CACNA1F gene, and all showed signs of optic nerve involvement. All patients showed a certain degree of myopic refractive error. Low average pRNFL thickness was evident in all patients. In three of them, pRNFL thickness was evaluated longitudinally and was proven to be stable over time. MRI imaging was unremarkable in all cases. Conclusion: Our data support the hypothesis that CACNA1F could be related to early-onset or congenital optic nerve involvement without any signs of a progressive optic neuropathy. Even though additional data from larger cohorts and longer follow-up periods are needed to further support and confirm our findings, there is a clear significance to our findings in the preparation for future CACNA1F gene therapy trials. |
| فهرسة مساهمة: | Keywords: CACNA1F gene; congenital stationary night blindness; ganglion cell loss; myopia; optic neuropathy |
| المشرفين على المادة: | 0 (CACNA1F protein, human) 0 (Calcium Channels, L-Type) |
| SCR Disease Name: | Night blindness, congenital stationary |
| تواريخ الأحداث: | Date Created: 20221205 Date Completed: 20230324 Latest Revision: 20230422 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1080/13816810.2022.2132514 |
| PMID: | 36469668 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1744-5094 |
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| DOI: | 10.1080/13816810.2022.2132514 |