Overview of Neuro-Ophthalmic Findings in Leukodystrophies
Abstract
:1. Introduction
2. Materials and Methods
2.1. Data Extraction
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- visual function (e.g., reduced visual acuity, contrast sensitivity, color discrimination, peripheral vision, and higher order visual processing);
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- eye movement disorders (EMD) (e.g., nystagmus, strabismus that was defined as any heterotropia at near and/or distance fixation);
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- fixational eye movement disorders (FEMD) (e.g., no ability to fix and follow or track objects);
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- pupillary light reflex (defined as either absent, delayed, or slowed); and
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- anterior and periocular segment findings (e.g., cataracts, ptosis, infections of the eye) and posterior segment findings (e.g., optic atrophy).
2.2. MRI Analysis
2.3. Optical Coherence Tomography and Retinal Nerve Fiber Measurement
2.4. Visual Evoked Potential (VEP)
2.5. Literature Review
2.6. Data Analysis
3. Results
3.1. Patient Characteristics
3.2. Neuro-Ophthalmologic Disease Manifestations
3.2.1. EMD Nystagmus as an Early Sign of Hypomyelinating Leukodystrophies
3.2.2. EMD Strabismus
3.2.3. Fixational Eye Movement Disorders (FEMD)
3.2.4. Visual Function
3.2.5. Pupillary Light Reflex
3.2.6. Anterior and Periocular Segment Findings
3.2.7. Posterior Segment Findings as Optic Atrophy
3.3. VEP Results in Leukodystrophies
3.4. OCT in Leukodystrophies
3.5. MRI Findings Correlate with Neuro-Ophthalmologic Findings
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Sex | Sex * | ||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | n/n HLC (%) | Median AO in Months | m | f | Disease | n/n LLC (%) * | Median AO in Months * | m | f |
Total | 148/217 (68%) | 7 | 128 | 89 | Total | 831/1090 (76%) | 6 | 655 | 219 |
MLD | 21/50 (42%) | 63 | 26 | 24 | MLD | 39/122 (32%) | 24 | 15 | 12 |
CD | 34/34 (100%) | 2 | 17 | 17 | CD | 29/35 (83%) | 7 | 21 | 11 |
KD | 14/25 (56%) | 5 | 12 | 13 | KD | 47/86 (55%) | 11 | 37 | 31 |
X-ALD | 13/22 (59%) | 94 | 22 | 0 | X-ALD | 32/47 (68%) | 83 | 61 | 0 |
PMD | 13/13 (100%) | 1 | 13 | 0 | PMD | 285/291 (98%) | 2 | 254 | 11 |
VWM | 7/12 (58%) | 25 | 6 | 6 | VWM | 7/24 (29%) | 30 | 8 | 13 |
AxD | 3/10 (30%) | 13 | 5 | 5 | AxD | 4/6 (67%) | 8 | 2 | 3 |
AGS | 6/9 (67%) | 5 | 6 | 3 | AGS | 2/3 (67%) | 4 | 3 | 0 |
MLC | 2/5 (40%) | 11 | 4 | 1 | MLC | 1/1 (100%) | 5 | 1 | 0 |
Others | 27/37 (73%) | 4 | 17 | 20 | others | 385/475 (81%) | 3 | 253 | 138 |
n/n HLC (%) | n/n LLC (%) | |
---|---|---|
Total NOS | 366 | 1057 |
EMD | 111/366 (30%) | 637/1057 (60%) |
Fixational eye movement | 55/366 (15%) | 24/1057 (2%) |
Posterior segment findings | 47/366 (13%) | 145/1057 (18%) |
Refractive errors | 37/366 (10%) | not specified |
Pathological light reflex | 36/366 (10%) | 28/1057 (3%) |
Visual function | 23/366 (6%) | 223/1057 (21%) |
Anterior and periocular segment findings | 23/366 (6%) | not specified |
Nystagmus (EMD) | Strabismus (EMD) | FEMD | Visual Function | Pathological Light Reflex | ||||||
---|---|---|---|---|---|---|---|---|---|---|
n/n HLC (%) | n/n LLC (%) | n/n HLC (%) | n/n LLC (%) | n/n HLC (%) | n/n LLC (%) | n/n HLC (%) | n/n LLC (%) | n/n HLC (%) | n/n LLC (%) | |
Total | 60/217 (28%) | 569/790 (72%) | 40/217 (18%) | 68/202 (34%) | 55/217 (25%) | 24/35 (69%) | 23/217 (11%) | 223/417 (53%) | 31/217 (14%) | 28/72 (39%) |
PMD | 13/13 (100%) | 273/276 (99%) | 4/13 (31%) | 3/11 (27%) | 2/13 (15%) | 1/1 (100%) | 0/13 (0%) | 24/94 (26%) | 1/13 (8%) | not specified |
CD | 21/34 (62%) | 9/15 (60%) | 9/34 (26%) | not specified | 19/34 (56%) | 7/17 (41%) | 7/34 (21%) | 14/14 (100%) | 7/34 (21%) | 1/1 (100%) |
VWM | 3/12 (25%) | 1/1 (100%) | 2/12 (17%) | not specified | 2/12 (17%) | not specified | 1/12 (8%) | 1/1 (100%) | 1/12 (8%) | 1/1 (100%) |
AGS | 2/9 (22%) | 2/3 (67%) | 2/9 (22%) | not specified | 4/9 (44%) | 1/1 (100%) | 0/9 (0%) | not specified | 3/9 (33%) | not specified |
AxD | 2/10 (20%) | 4/4 (100%) | 0/10 (0%) | 1/1 (100%) | 0/10 (0%) | not specified | 0/10 (0%) | not specified | 1/10 (10%) | not specified |
KD | 4/25 (16%) | 13/112 (12%) | 3/25 (12%) | 5/35 (14%) | 7/25 (28%) | 2/2 (100%) | 2/25 (8%) | 59/108 (44%) | 4/25 (16%) | 20/34 (59%) |
X-ALD | 1/22 (5%) | 4/4 (100%) | 5/22 (23%) | 19/43 (44%) | 6/22 (27%) | not specified | 6/22 (27%) | 36/57 (63%) | 1/22 (5%) | not specified |
MLD | 2/50 (4%) | 3/3 (100%) | 5/50 (10%) | 17/63 (27%) | 7/50 (14%) | not specified | 1/50 (2%) | not specified | 11/50 (22%) | not specified |
MLC | 0/5 (0%) | not specified | 0/5 (0%) | not specified | 0/5 (0%) | not specified | 0/5 (0%) | not specified | 0/5 (0%) | not specified |
others | 12/37 (32%) | 260/372 (70%) | 10/37 (27%) | 23/49 (47%) | 7/37 (19%) | 13/14 (93%) | 6/37 (16%) | 89/143 (63%) | 2/37 (5%) | 6/36 (17%) |
n/n HLC (%) | n/n LLC (%) | |
---|---|---|
Total | 35/54 (65%) | 52/79 (66%) |
PMD | 4/4 (100%) | 13/16 (81%) |
AGS | 1/1 (100%) | not specified |
MLC | 2/2 (100%) | 1/1 (100%) |
CD | 4/5 (80%) | 1/3 (33%) |
MLD | 11/19 (58%) | 9/12 (75%) |
VWM | 2/4 (50%) | not specified |
X-ALD | 2/5 (40%) | 3/5 (60%) |
AxD | 1/3 (33%) | 0/2 (0%) |
KD | 1/4 (25%) | 23/37 (62%) |
others | 7/7 (100%) | 2/3 (66%) |
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Bettinger, C.M.; Dulz, S.; Atiskova, Y.; Guerreiro, H.; Schön, G.; Guder, P.; Maier, S.L.; Denecke, J.; Bley, A.E. Overview of Neuro-Ophthalmic Findings in Leukodystrophies. J. Clin. Med. 2024, 13, 5114. https://doi.org/10.3390/jcm13175114
Bettinger CM, Dulz S, Atiskova Y, Guerreiro H, Schön G, Guder P, Maier SL, Denecke J, Bley AE. Overview of Neuro-Ophthalmic Findings in Leukodystrophies. Journal of Clinical Medicine. 2024; 13(17):5114. https://doi.org/10.3390/jcm13175114
Chicago/Turabian StyleBettinger, Charlotte Maria, Simon Dulz, Yevgeniya Atiskova, Helena Guerreiro, Gerhard Schön, Philipp Guder, Sarah Lena Maier, Jonas Denecke, and Annette E. Bley. 2024. "Overview of Neuro-Ophthalmic Findings in Leukodystrophies" Journal of Clinical Medicine 13, no. 17: 5114. https://doi.org/10.3390/jcm13175114