| Disease name | Common synonyms | Inheritance | Causal gene | Key distinguishing features | Key sources (year; URL/DOI) |
|---|---|---|---|---|---|
| PRPF31-related retinopathy | Retinitis pigmentosa 11 (RP11); PRPF31-associated retinitis pigmentosa; PRPF31-associated autosomal dominant retinitis pigmentosa (PRPF31-associated adRP) | Autosomal dominant with incomplete/non-penetrance and variable expressivity (pqac-00000002, pqac-00000005, pqac-00000006) | **PRPF31** (pre-mRNA processing factor 31), a core spliceosomal/tri-snRNP component (pqac-00000001, pqac-00000007) | Retina-predominant degeneration despite ubiquitous gene expression; typical rod-first disease with nyctalopia/night blindness, progressive visual-field constriction, then secondary cone/central vision loss; hallmark **incomplete penetrance linked to PRPF31 expression level/haploinsufficiency**; low wild-type PRPF31 expression associates with disease, while higher expression can permit asymptomatic carrier status (pqac-00000002, pqac-00000003, pqac-00000005, pqac-00000006) | Buskin et al. 2018; https://doi.org/10.1038/s41467-018-06448-y (pqac-00000001). Rose & Bhattacharya 2016; https://doi.org/10.1111/cge.12758 (pqac-00000002). Rodrigues et al. 2022; https://doi.org/10.1038/s41536-022-00235-6 (pqac-00000006). Grainok et al. 2024; https://doi.org/10.3390/ijms25063391 (pqac-00000003). Georgiou et al. 2022; https://doi.org/10.1002/ctm2.759 (pqac-00000007). Varela et al. 2023; https://doi.org/10.1136/bjo-2022-321903 (pqac-00000005) |
| Expression-penetrance note | Non-penetrant PRPF31 carriers; asymptomatic carriers | Same AD family transmission, but some heterozygous carriers remain unaffected (pqac-00000002, pqac-00000006) | **PRPF31** | Example quantitative support: a truncating PRPF31 exon 12 variant showed ~46% reduced PRPF31 mRNA in affected fibroblasts versus controls, compared with ~34% reduction in a non-penetrant carrier; ASO-induced exon skipping increased PRPF31 mRNA ~1.7-fold toward a predicted therapeutic threshold (pqac-00000003) | Grainok et al. 2024; https://doi.org/10.3390/ijms25063391 (pqac-00000003). Lan et al. 2022; https://doi.org/10.3390/jcm11226682 (pqac-00000000) |


*Table: This table summarizes core nomenclature, inheritance, causal gene, and the defining penetrance-related biology of PRPF31-related retinopathy. It is useful as a compact disease-identity reference for a knowledge base entry.*