A Review of Secondary Photoreceptor Degenerations in Systemic Disease
Bibliographic record
Abstract
Photoreceptor neuronal degenerations are common and incurable causes of human blindness with one in 2000 affected.Approximately, half of all patients are associated with known mutations in more than 200 disease genes.Most retinal degenerations are restricted to the retina ( primary retinal degeneration) but photoreceptor degeneration can also be found in a wide variety of systemic and syndromic diseases.These are called secondary retinal degenerations.We review several well-known systemic diseases with retinal degenerations (RD).We discuss RD with hearing loss, RD with brain disease, and RD with musculoskeletal disease.We then postulate which retinal degenerations may also have previously undetected systemic features.Emerging new and exciting evidence is showing that ubiquitously expressed genes associated with multitissue syndromic disorders may also harbor mutations that cause isolated primary retinal degeneration.Examples are RPGR, CEP290, CLN3, MFSD5, and HK1 mutations that cause a wide variety of primary retinal degenerations with intact systems. RETINAL DEGENERATION AND SYSTEMIC DISEASEP hotoreceptor degeneration leads to blind- ness in millions of people and is thought to have a worldwide prevalence of one in 2000.Photoreceptor death and pigmentary retinal degeneration is the final common outcome in many retinal disorders (such as retinitis pigmentosa, RP) and many choroidal disorders (such as choroideremia), but it is also a common and serious manifestation of numerous metabolic, neuro-degenerative and other systemic diseases.The evaluation of patients with pigmentary retinal degeneration is especially challenging for various reasons.First, the retinal degenerations can be found in babies and infants, and dominate the phenotype early in the disease process, whereas life threatening systemic disease follows
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.005 | 0.004 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.007 | 0.004 |
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".