دورية أكاديمية
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles
| العنوان: | Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles |
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| المؤلفون: | Mervyn G. Thomas, Gail D. E. Maconachie, Helen J. Kuht, Wai-Man Chan, Viral Sheth, Michael Hisaund, Rebecca J. McLean, Brenda Barry, Bashir Al-Diri, Frank A. Proudlock, Zhanhan Tu, Elizabeth C. Engle, Irene Gottlob |
| المصدر: | International Journal of Molecular Sciences, Vol 22, Iss 5, p 2575 (2021) |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | congenital fibrosis of extraocular muscles, optic nerve hypoplasia, optical coherence tomography, retinal ganglion cells, development, congenital cranial dysinnervation disorders, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations of KIF21A or TUBB3. Although spatiotemporal expression studies have shown KIF21A and TUBB3 expression in developing retinal ganglion cells, it is unclear whether dysinnervation extends beyond the oculomotor system. We aimed to investigate whether dysinnervation extends to the visual system by performing high-resolution optical coherence tomography (OCT) scans characterizing retinal ganglion cells within the optic nerve head and retina. Sixteen patients with CFEOM were screened for mutations in KIF21A, TUBB3, and TUBB2B. Six patients had apparent optic nerve hypoplasia. OCT showed neuro-retinal rim loss. Disc diameter, rim width, rim area, and peripapillary nerve fiber layer thickness were significantly reduced in CFEOM patients compared to controls (p < 0.005). Situs inversus of retinal vessels was seen in five patients. Our study provides evidence of structural optic nerve and retinal changes in CFEOM. We show for the first time that there are widespread retinal changes beyond the retinal ganglion cells in patients with CFEOM. This study shows that the phenotype in CFEOM extends beyond the motor nerves. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/22/5/2575; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms22052575 |
| URL الوصول: | https://doaj.org/article/06972235c6d446b3bdb335e13189e8a0 |
| رقم الأكسشن: | edsdoj.06972235c6d446b3bdb335e13189e8a0 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms22052575 |