Characterization of Charles bonnet syndrome in leber hereditary optic neuropathy patients
Bibliographic record
Abstract
Abstract Purpose: Charles Bonnet Syndrome (CBS) is a condition involving visual hallucinations as a result of vision loss, but it is not well characterized nor routinely assessed for. Some patients with Leber's Hereditary Optic Neuropathy (LHON) experience CBS, but there is limited published data. This is the first study screening for and characterizing CBS in a large cohort of the LHON patient population. Methods: A recently validated French‐Canadian CBS screening questionnaire was adapted to an online bilingual (English‐French) format, tailored to LHON patients (Cantin et al. CJO, 2019;54:323‐7). The 59‐item questionnaire was distributed to numerous mailing lists, online communities and social media platforms consisting of LHON patients. Quantitative and qualitative response data was used for cross‐sectional analysis. Results: A total of 169 affected LHON patients completed the questionnaire with 70% screening positive for CBS. Of the participants who screened positive for CBS, 58% were male and 85% were less than 65 years old. 55.1% were affected by the 11778G > A mutation, 13.6% by 14484 T > C, 14.4% by 3460G > A, 7.6% by other mutations and 9.3% by an unknown mutation. In addition, 41.5% of these participants have been diagnosed with LHON for more than 10 years while 38% have been diagnosed for <5 years. Conclusions: Our results yielded a high proportion of LHON patients screening positive for CBS (70%), indicating the condition may be a lot more common than previously suspected, and only a minority of LHON patients are being adequately assessed and managed for the condition. There is also an indication that their CBS tends to be long‐lasting and can be associated with various negative health outcomes. Overall, this study provides a better understanding of the prevalence of CBS in LHON and the need for proactive discussions by health care providers. References 1. Cantin S, Duquette J, Dutrisac F, Ponton L, Courchesne M, de Abreu Cybis W, et al. Charles Bonnet syndrome: development and validation of a screening and multidimensional descriptive questionnaire. Canadian Journal of Ophthalmology 2019;54:323–7. https://doi.org/10.1016/j.jcjo.2018.05.008 .
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".