Oligocone trichromacy is part of the spectrum of<i>CNGA3</i>-related cone system disorders
Bibliographic record
Abstract
PURPOSE: To report the rare observation of CNGA3 mutation as a cause of oligocone trichromacy (OT) and present phenotypic characteristics. METHODS: A 20 year old male patient underwent ophthalmological evaluation including detailed color vision assessment using Ishihara pseudoisochromatic plates, American Optical Hardy Rand Rittler plates (HRR) and Mollon-Reffin Minimalist test (MRM). Optical coherence tomography (OCT), fundus autofluorescence (FAF), visual field assessment and electrophysiological testing was also performed. The patient's DNA was sequenced for mutations in the coding sequence of CNGA3 and CNGB3 genes. RESULTS: Best corrected visual acuity (BCVA) was 20/50 and 20/30 in the right and left eyes respectively. His color vision was normal to Ishihara, HRR and MRM tests. Fundus appearance, FAF, OCT and Goldmann visual fields (GVF) were all normal. Humphrey visual field analysis (HVF) demonstrated reduced sensitivity and paracentral scotomas (5-20°). The full-field electroretinogram (ERG) showed normal rod responses and severely reduced cone responses. The multifocal electroretinogram (mfERG) was non-recordable above noise. Compound heterozygous mutations in exon 8 of the CNGA3 coding sequence were identified; c.1070 A > G (Tyr357Cys; novel) and c.1694 C > T (Thr565Met). Allele-specific polymerase chain reaction confirmed that the mutations were located on separate alleles. No mutations were identified in CNGB3. CONCLUSION: This is the second reported case of CNGA3 associated OT. Mutations in CNGA3 have previously been associated with incomplete and complete achromatopsia. This report confirms that OT forms the mildest end of the spectrum of CNGA3 related diseases.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".