Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles
| Autor: | Viral Sheth, Rebecca J. McLean, Brenda J. Barry, Bashir Al-Diri, Gail Maconachie, Elizabeth C. Engle, Michael Hisaund, Mervyn G Thomas, Helen J Kuht, Wai-Man Chan, Irene Gottlob, Zhanhan Tu, Frank A Proudlock |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Male Retinal Ganglion Cells A300 Clinical Medicine genetic structures Nerve fiber layer lcsh:Chemistry 0302 clinical medicine Congenital fibrosis of the extraocular muscles optic nerve hypoplasia lcsh:QH301-705.5 Spectroscopy Optic nerve hypoplasia Ophthalmoplegia Cranial nerves Cranial Nerves General Medicine Anatomy Computer Science Applications medicine.anatomical_structure Phenotype congenital fibrosis of extraocular muscles Optic nerve Female G760 Machine Learning Tomography Optical Coherence G740 Computer Vision Adult Optic Disk Mutation Missense Extraocular muscles Retinal ganglion Catalysis Article Retina Inorganic Chemistry 03 medical and health sciences Young Adult medicine Humans Physical and Theoretical Chemistry Molecular Biology development optical coherence tomography business.industry Organic Chemistry Optic Nerve medicine.disease Fibrosis eye diseases 030104 developmental biology lcsh:Biology (General) lcsh:QD1-999 Oculomotor Muscles 030221 ophthalmology & optometry sense organs business congenital cranial dysinnervation disorders |
| Zdroj: | International Journal of Molecular Sciences, Vol 22, Iss 2575, p 2575 (2021) International Journal of Molecular Sciences Volume 22 Issue 5 |
| ISSN: | 1422-0067 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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