Pearls & Oy-sters: Maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy
Bibliographic record
Abstract
Ptosis can occur with a variety of mitochondrial syndromes, not just chronic progressive external ophthalmoplegia.• Macular pattern dystrophy is highly characteristic of maternally inherited diabetes and deafness (MIDD), and funduscopy should be performed on all subjects with personal or family history of diabetes and deafness. OY-STER• Only 15% of patients with MIDD have diabetes at diagnosis, and diabetes may start at ages ranging from the teens to the fifth decade.Mitochondrial disorders can cause an array of neuroophthalmologic manifestations such as ptosis, external ophthalmoparesis, nystagmus, pigmentary retinopathy, and optic neuropathy. 1 The m.3243AϾG point mutation in the mitochondrial genome, an alanine-toguanine transition at position 3243 of mitochondrial DNA, in the MT-TL1 gene that encodes the tRNALeu (UUR), commonly presents as an encephalopathy accompanied by lactic acidosis and stroke-like episodes (MELAS).Many mutation carriers, however, have a wide range of neurologic, cardiac, endocrine, gastrointestinal, and psychiatric symptoms, as well as other mitochondrial syndromes.2 Another syndrome also associated with this mutation is maternally inherited diabetes and deafness (MIDD).3 Ptosis and ophthalmoparesis are not generally seen in MIDD, 4 with only 1 report of 2 patients with ptosis in this condition.5 We present another patient with ptosis associated with MIDD and the m.3243AϾG mutation, in whom the key diagnostic feature was the macular pattern dystrophy typical of MIDD.CASE REPORT A 54-year-old woman had right ptosis since her early teens (figure).This was stable for decades but began to worsen at age 40.Surgical correction was attempted twice but ptosis recurred.From the Departments of Ophthalmology and Visual Sciences (O.O., C.S., J.J.S.B.) and Medicine (Neurology) (O.O., J.J.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 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".