Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia
It remains unresolved whether central nervous system involvement in treated classical galactosemia (CG) is a progressive neurodegenerative process. This study aimed to investigate retinal neuroaxonal degeneration in CG as a surrogate of brain pathology. Global peripapillary retinal nerve fibre layer...
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MDPI AG
2023-03-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/5/2030 |
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| author | Amelie S. Lotz-Havla Tara Christmann Klaus G. Parhofer Esther M. Maier Joachim Havla |
| author_facet | Amelie S. Lotz-Havla Tara Christmann Klaus G. Parhofer Esther M. Maier Joachim Havla |
| author_sort | Amelie S. Lotz-Havla |
| collection | DOAJ |
| description | It remains unresolved whether central nervous system involvement in treated classical galactosemia (CG) is a progressive neurodegenerative process. This study aimed to investigate retinal neuroaxonal degeneration in CG as a surrogate of brain pathology. Global peripapillary retinal nerve fibre layer (GpRNFL) and combined ganglion cell and inner plexiform layer (GCIPL) were analysed in 11 CG patients and 60 controls (HC) using spectral–domain optical coherence tomography. Visual acuity (VA) and low-contrast VA (LCVA) were acquired to test visual function. GpRNFL and GCIPL did not differ between CG and HC (<i>p</i> > 0.05). However, in CG, there was an effect of intellectual outcome on GCIPL (<i>p</i> = 0.036), and GpRNFL and GCIPL correlated with neurological rating scale scores (<i>p</i> < 0.05). A single-case follow-up analysis showed GpRNFL (0.53–0.83%) and GCIPL (0.52–0.85%) annual decrease beyond the normal aging effect. VA and LCVA were reduced in CG with intellectual disability (<i>p</i> = 0.009/0.006), likely due to impaired visual perception. These findings support that CG is not a neurodegenerative disease, but that brain damage is more likely to occur early in brain development. To clarify a minor neurodegenerative component in the brain pathology of CG, we propose multicenter cross-sectional and longitudinal studies using retinal imaging. |
| first_indexed | 2024-03-11T07:20:08Z |
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| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T07:20:08Z |
| publishDate | 2023-03-01 |
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| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-f654c10eb458412897c40935e4a0121d2023-11-17T08:01:39ZengMDPI AGJournal of Clinical Medicine2077-03832023-03-01125203010.3390/jcm12052030Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical GalactosemiaAmelie S. Lotz-Havla0Tara Christmann1Klaus G. Parhofer2Esther M. Maier3Joachim Havla4Department of Inborn Errors of Metabolism, Dr. von Hauner Children’s Hospital—University Hospital, LMU Munich, 80337 Munich, GermanyInstitute of Clinical Neuroimmunology, University Hospital, LMU Munich, 81377 Munich, GermanyMedical Department IV-Grosshadern, University Hospital, LMU Munich, 81377 Munich, GermanyDepartment of Inborn Errors of Metabolism, Dr. von Hauner Children’s Hospital—University Hospital, LMU Munich, 80337 Munich, GermanyInstitute of Clinical Neuroimmunology, University Hospital, LMU Munich, 81377 Munich, GermanyIt remains unresolved whether central nervous system involvement in treated classical galactosemia (CG) is a progressive neurodegenerative process. This study aimed to investigate retinal neuroaxonal degeneration in CG as a surrogate of brain pathology. Global peripapillary retinal nerve fibre layer (GpRNFL) and combined ganglion cell and inner plexiform layer (GCIPL) were analysed in 11 CG patients and 60 controls (HC) using spectral–domain optical coherence tomography. Visual acuity (VA) and low-contrast VA (LCVA) were acquired to test visual function. GpRNFL and GCIPL did not differ between CG and HC (<i>p</i> > 0.05). However, in CG, there was an effect of intellectual outcome on GCIPL (<i>p</i> = 0.036), and GpRNFL and GCIPL correlated with neurological rating scale scores (<i>p</i> < 0.05). A single-case follow-up analysis showed GpRNFL (0.53–0.83%) and GCIPL (0.52–0.85%) annual decrease beyond the normal aging effect. VA and LCVA were reduced in CG with intellectual disability (<i>p</i> = 0.009/0.006), likely due to impaired visual perception. These findings support that CG is not a neurodegenerative disease, but that brain damage is more likely to occur early in brain development. To clarify a minor neurodegenerative component in the brain pathology of CG, we propose multicenter cross-sectional and longitudinal studies using retinal imaging.https://www.mdpi.com/2077-0383/12/5/2030classical galactosemiaoptical coherence tomography (OCT)neurodegenerationbrain damageretinavisual acuity |
| spellingShingle | Amelie S. Lotz-Havla Tara Christmann Klaus G. Parhofer Esther M. Maier Joachim Havla Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia Journal of Clinical Medicine classical galactosemia optical coherence tomography (OCT) neurodegeneration brain damage retina visual acuity |
| title | Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia |
| title_full | Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia |
| title_fullStr | Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia |
| title_full_unstemmed | Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia |
| title_short | Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia |
| title_sort | optical coherence tomography retinal imaging contributes to the understanding of brain pathology in classical galactosemia |
| topic | classical galactosemia optical coherence tomography (OCT) neurodegeneration brain damage retina visual acuity |
| url | https://www.mdpi.com/2077-0383/12/5/2030 |
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