PRPF31-Related Retinopathy (Retinitis Pigmentosa 11, RP11): Disease Characteristics Research Report

Executive summary

PRPF31-related retinopathy (commonly referred to as retinitis pigmentosa 11; RP11) is a Mendelian autosomal-dominant inherited retinal dystrophy caused by heterozygous pathogenic variants in PRPF31, a core spliceosomal tri-snRNP component. A defining clinical/genetic hallmark is incomplete penetrance: some variant carriers remain asymptomatic, strongly associated with higher expression of the remaining wild-type PRPF31 allele (haploinsufficiency threshold model). Disease typically follows a rod-first degeneration pattern with nyctalopia and peripheral field loss followed by cone involvement and reduced central vision. Multiple therapeutic strategies are under active development, including intravitreal VP-001 (interventional clinical trials) and preclinical AAV gene augmentation, splice-switching ASOs, and supportive approaches such as autophagy activation. (rose2016varianthaploinsufficiencyand pages 1-2, grainok2024aprecisiontherapy pages 2-4, rodrigues2022modelingprpf31retinitis pages 1-2, NCT05902962 chunk 1)

1. Disease information

1.1 What is the disease?

PRPF31-related retinopathy is a non-syndromic retinitis pigmentosa caused by PRPF31 mutations, characterized by progressive retinal degeneration that begins with rod dysfunction (nyctalopia/night blindness and peripheral visual field constriction) and progresses to cone involvement with loss of central vision in later stages. (rose2016varianthaploinsufficiencyand pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)

A mechanistic feature emphasized in patient-derived retinal models is that PRPF31 mutation causes retina-specific disruption of alternative splicing programs, including mis-splicing of genes involved in splicing itself and in ciliogenesis/adhesion, producing RPE and photoreceptor dysfunction despite ubiquitous PRPF31 expression. (buskin2018disruptedalternativesplicing pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)

1.2 Key identifiers (OMIM, Orphanet, ICD, MeSH, MONDO)

The retrieved primary papers and clinical trial records consistently use the disease names “PRPF31-associated retinitis pigmentosa,” “retinitis pigmentosa 11 (RP11),” and “PRPF31 mutation-associated retinal dystrophy.” (grainok2024aprecisiontherapy pages 2-4, NCT05902962 chunk 1, NCT05573984 chunk 1)

Limitation: OMIM/Orphanet/ICD/MeSH/MONDO identifiers were not present in the available full-text snippets or ClinicalTrials.gov chunks retrieved here, so they cannot be asserted from this evidence set.

1.3 Synonyms / alternative names

Synonyms used across sources include: - Retinitis pigmentosa 11 (RP11) (grainok2024aprecisiontherapy pages 2-4) - PRPF31-associated retinitis pigmentosa (NCT06368375 chunk 1) - PRPF31 mutation-associated retinal dystrophy (NCT05902962 chunk 1)

1.4 Evidence sources: aggregated vs individual

Evidence in this report comes from: - Primary experimental disease-model and mechanistic studies (human iPSC-derived retinal organoids/RPE; mouse CRISPR/AAV models). (buskin2018disruptedalternativesplicing pages 1-2, georgiou2022activationofautophagy pages 1-3, xi2022geneaugmentationprevents pages 1-2) - Clinical/review synthesis and treatment landscape sources (autosomal-dominant IRD treatment review). (varela2023genetictreatmentfor pages 6-9) - ClinicalTrials.gov registry records for ongoing/completed observational and interventional studies. (NCT05902962 chunk 1, NCT05573984 chunk 1, NCT06368375 chunk 1)

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.

2. Etiology

2.1 Disease causal factors

Primary cause: heterozygous pathogenic variants in PRPF31 causing autosomal-dominant RP11. (rose2016varianthaploinsufficiencyand pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)

Molecular etiology (current understanding): PRPF31 encodes a core spliceosomal tri-snRNP component; pathogenic variants commonly lead to loss-of-function and reduced effective PRPF31 activity, producing disrupted splicing programs in retinal cells. (buskin2018disruptedalternativesplicing pages 1-2, georgiou2022activationofautophagy pages 1-3)

2.2 Risk factors

• Genetic: carrying a PRPF31 pathogenic variant is the principal risk factor. (rose2016varianthaploinsufficiencyand pages 1-2)
• Modifier/contextual genetic effects: incomplete penetrance and variable expressivity are linked to PRPF31 expression variability and potential modifier loci; a proposed association with a 4-copy MSR1 repeat has been discussed in the autosomal-dominant IRD treatment review. (varela2023genetictreatmentfor pages 6-9)

A large-deletion pedigree study reports differential PRPF31 expression among carriers and notes potential cooperative effects of other differentially expressed genes; it also highlights incomplete penetrance as a key family feature. (lan2022a69kb pages 9-12)

2.3 Protective factors

A practical “protective” factor in this disease is higher expression of PRPF31 from the remaining normal allele, which can allow asymptomatic carrier status (non-penetrance). (grainok2024aprecisiontherapy pages 2-4, rodrigues2022modelingprpf31retinitis pages 1-2)

2.4 Gene–environment interactions

No specific environmental triggers or gene–environment interactions were identified in the retrieved evidence.

3. Phenotypes

Core clinical features include: - Nyctalopia/night blindness and progressive visual field constriction as early manifestations (rod dysfunction/degeneration). (rose2016varianthaploinsufficiencyand pages 1-2) - Secondary cone degeneration leading to central vision impairment later in disease. (rose2016varianthaploinsufficiencyand pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)

Disease-course variability is notable; one review reports age of onset variability from ~6 to 71 years. (varela2023genetictreatmentfor pages 6-9)

A large PRPF31 deletion pedigree described very early onset (night blindness around age 3 in affected individuals) in that family, underscoring variable expressivity. (lan2022a69kb pages 9-12)

HPO mappings

Table: This table summarizes the main clinical features reported for PRPF31-related retinopathy (RP11), with suggested HPO mappings and notes on onset and progression. It is useful for structuring phenotype annotations in a disease knowledge base.

Quality-of-life impacts are not directly quantified in the retrieved primary papers, but ClinicalTrials.gov natural history protocols include validated patient-reported outcome instruments (e.g., MRDQ, PGI-S, PGI-C), indicating recognized functional burden. (NCT05573984 chunk 1, NCT05573984a chunk 1)

4. Genetic / molecular information

4.1 Causal gene

• Gene: PRPF31 (pre-mRNA processing factor 31), spliceosome/tri-snRNP component. (buskin2018disruptedalternativesplicing pages 1-2, georgiou2022activationofautophagy pages 1-3)
• Inheritance: autosomal dominant, with incomplete penetrance. (rose2016varianthaploinsufficiencyand pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)

4.2 Pathogenic variants and functional consequence

Multiple classes of PRPF31 variants are implicated (nonsense/truncating, deletions, etc.), generally consistent with loss-of-function/haploinsufficiency. (lan2022a69kb pages 9-12, grainok2024aprecisiontherapy pages 2-4, rodrigues2022modelingprpf31retinitis pages 1-2)

Quantitative penetrance–expression link (example): In a family with PRPF31 c.1205C>A (nonsense) variant, PRPF31 transcripts from the mutant allele were undetectable (consistent with nonsense-mediated decay), producing an observed 46% reduction in PRPF31 mRNA versus controls in patient fibroblasts; a non-penetrant carrier with the same variant had a smaller reduction (~34%). (grainok2024aprecisiontherapy pages 2-4)

4.3 Modifier genes / modifiers of penetrance

• Review-level evidence notes association of non-penetrance with an MSR1 repeat copy number (4-copy MSR1 repeat). (varela2023genetictreatmentfor pages 6-9)
• A large-deletion pedigree study mentions expression variation and suggests cooperative effects of other genes, and notes modifiers (e.g., CNOT3 and MSR1) in discussion of penetrance variability. (lan2022a69kb pages 9-12)

4.4 Epigenetics and chromosomal abnormalities

A 69 kb deletion encompassing PRPF31 exon 1 and upstream genes is described in a large family; the deletion breakpoints are within Alu repeats, consistent with structural-variant mechanisms. (lan2022a69kb pages 9-12)

No specific DNA methylation/histone findings were available in the retrieved evidence.

5. Environmental information

No environmental, lifestyle, or infectious contributors were identified in the retrieved evidence. The disease is primarily genetic. (rose2016varianthaploinsufficiencyand pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)

6. Mechanism / pathophysiology

6.1 Causal chain (current model)

1. Heterozygous PRPF31 loss-of-function reduces effective PRPF31 availability (haploinsufficiency) in susceptible retinal cell types. (rodrigues2022modelingprpf31retinitis pages 1-2, georgiou2022activationofautophagy pages 1-3)
2. Retinal cells exhibit disrupted alternative splicing programs, including mis-splicing of genes involved in splicing and ciliogenesis/cell adhesion. (buskin2018disruptedalternativesplicing pages 1-2)
3. RPE defects occur, including disrupted apical–basal polarity, decreased barrier function (reduced transepithelial resistance), impaired phagocytosis, and ciliary abnormalities; photoreceptors show progressive degeneration and cellular stress. (buskin2018disruptedalternativesplicing pages 1-2)
4. In severe PRPF31-adRP iPSC-derived retinal/RPE models, mutant PRPF31 and other proteins accumulate as cytoplasmic aggregates, with associated defects in tri-snRNP assembly, altered nuclear speckles, reduced active spliceosome formation, and global splicing dysregulation; impaired waste disposal (autophagy/lysosome, proteostasis) exacerbates degeneration. (georgiou2022activationofautophagy pages 1-3)

6.2 Pathways / processes (ontology suggestions)

GO Biological Process (suggested): - mRNA splicing via spliceosome - cilium organization / ciliogenesis - autophagy - unfolded protein response - phagocytosis (grounded in observed splicing dysregulation, ciliary defects, aggregate clearance, and RPE phagocytic deficits) (buskin2018disruptedalternativesplicing pages 1-2, georgiou2022activationofautophagy pages 1-3)

Cell types (CL terms; suggested): - Retinal pigment epithelial cell (RPE) - Rod photoreceptor cell - Cone photoreceptor cell (central affected cell populations across iPSC and mouse studies) (buskin2018disruptedalternativesplicing pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)

Tissue/structure (UBERON; suggested): - Retina - Retinal pigment epithelium - Photoreceptor layer / outer nuclear layer (paired with OCT/structural thinning described in mouse model) (xi2022geneaugmentationprevents pages 3-4)

6.3 Expert opinions / authoritative analyses

A 2023 British Journal of Ophthalmology review on autosomal-dominant IRD therapies emphasizes that dominant diseases such as PRPF31-associated adRP often require strategies beyond simple gene supplementation depending on mechanism, and highlights incomplete penetrance/variable expressivity and onset variability as key clinical considerations. (varela2023genetictreatmentfor pages 6-9)

6.4 Recent developments (2023–2024 prioritized)

• Precision ASO splice-switching therapy (2024): exon 12 skipping to restore an open reading frame for certain truncating variants, with quantified PRPF31 mRNA restoration toward a predicted therapeutic threshold (1.7-fold upregulation in patient fibroblasts). (grainok2024aprecisiontherapy pages 2-4)
• Clinical translation via intravitreal investigational therapy VP-001 and dedicated multi-year natural history programs (initiated 2022; phase 1 trials initiated 2023/2024). (NCT05902962 chunk 1, NCT05573984 chunk 1)

Direct abstract quote examples (for knowledge base evidence items): - Grainok et al. 2024: “Retinitis pigmentosa 11 is an untreatable, dominantly inherited retinal disease caused by heterozygous mutations in pre-mRNA processing factor 31 PRPF31. The expression level of PRPF31 is linked to incomplete penetrance in affected families; mutation carriers with higher PRPF31 expression can remain asymptomatic.” (grainok2024aprecisiontherapy pages 2-4) - Buskin et al. 2018: “Mis-splicing of genes implicated in ciliogenesis and cellular adhesion was associated with severe RPE defects…” (buskin2018disruptedalternativesplicing pages 1-2) - Xi et al. 2022: “AAV-mediated PRPF31 gene augmentation restored the retinal structure and function…” (xi2022geneaugmentationprevents pages 1-2)

7. Anatomical structures affected

• Primary: retina and retinal pigment epithelium (RPE). (buskin2018disruptedalternativesplicing pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)
• Layer-level: outer retina including photoreceptor inner/outer segments and outer nuclear layer; thinning and loss are described in a Prpf31 KO mouse model. (xi2022geneaugmentationprevents pages 3-4)

8. Temporal development

• Onset: variable; review-level synthesis notes ~6–71 years, but some families show much earlier onset (e.g., childhood nyctalopia reported in one large deletion pedigree). (varela2023genetictreatmentfor pages 6-9, lan2022a69kb pages 9-12)
• Progression: chronic progressive degeneration with rod-first then cone involvement; consistent recapitulation of rod death followed by cone loss in retinal organoid models. (rodrigues2022modelingprpf31retinitis pages 1-2)

9. Inheritance and population

• Inheritance: autosomal dominant with incomplete penetrance / asymptomatic carriers common. (rose2016varianthaploinsufficiencyand pages 1-2, rodrigues2022modelingprpf31retinitis pages 1-2)
• Population/epidemiology: RP prevalence is reported as approximately 1 in 2500 births and affecting “over 1 million people worldwide” in a foundational mechanistic paper; PRPF31 contributes a substantial subset of autosomal dominant RP. (buskin2018disruptedalternativesplicing pages 1-2)

Attribution estimates for PRPF31 among adRP vary by cohort and source: e.g., 5–8% of adRP cohorts (Rodrigues 2022) and 6–11.1% in another summary within a PRPF31 mouse model paper. (rodrigues2022modelingprpf31retinitis pages 1-2, xi2022geneaugmentationprevents pages 1-2)

10. Diagnostics

10.1 Clinical tests used in practice/research settings

Clinical phenotyping and monitoring in PRPF31 cohorts commonly uses: - BCVA (ETDRS), low luminance VA (NCT05902962 chunk 1, NCT05573984 chunk 1) - Visual fields (kinetic/static perimetry) (NCT06455826 chunk 1, NCT06368375 chunk 1) - SD-OCT (retinal thickness; ellipsoid zone measures in natural history study) (NCT05573984 chunk 1) - Microperimetry (retinal sensitivity) (NCT05902962 chunk 1, NCT05573984 chunk 1) - Full-field ERG (NCT06368375 chunk 1) - Fundus photography and fundus autofluorescence; ultra-widefield imaging is used in at least one cohort. (NCT06368375 chunk 1)

10.2 Genetic testing

ClinicalTrials.gov protocols require genetic confirmation of PRPF31 mutation for study inclusion in both observational and interventional programs, reflecting real-world use of genetic testing for diagnosis and trial eligibility. (NCT05902962 chunk 1, NCT05573984 chunk 1)

10.3 Differential diagnosis

Not directly enumerated in retrieved evidence; clinically, differential diagnosis would include other causes of autosomal dominant retinitis pigmentosa (e.g., RHO, RP1, other splicing-factor genes), but explicit differential lists were not in the retrieved sources.

11. Outcome / prognosis

The disease is progressive and can lead to severe visual disability. Longitudinal natural history protocols include structural (ellipsoid zone area/volume), electrophysiology, and mobility testing endpoints, reflecting clinically meaningful progression assessment. (NCT05573984 chunk 1, NCT05573984a chunk 1)

Mortality is not discussed and is not expected to be directly affected in non-syndromic RP11; no mortality data were present in retrieved evidence.

12. Treatment

12.1 Current standard care

No curative standard therapy is described in the retrieved evidence; management is centered on monitoring and supportive care, while disease-modifying therapies are investigational. (varela2023genetictreatmentfor pages 6-9)

12.2 Advanced therapeutics and experimental treatments (2023–2024 emphasis)

• Intravitreal VP-001 clinical trials (PYC Therapeutics):
• Phase 1 SAD dose escalation (NCT05902962; started 2023-04-20; n=17). (NCT05902962 chunk 1)
• Phase 1 MAD repeat-dose escalation (NCT06455826; started 2024-06-13; completed 2025-09-24; n=6; 30 μg and 75 μg; 3 injections 8 weeks apart). (NCT06455826a chunk 1, NCT06455826 chunk 1)

• Repeat-dose safety/efficacy study listed (NCT06852963; Phase 1/2; n=17; details not available in retrieved chunk text). (NCT06455826a chunk 1)

• Natural history studies supporting endpoint selection and trial readiness: NCT05573984 (prospective, multi-center; started 2022-07-07; n=50; includes BCVA, LLVA, SD-OCT, ellipsoid zone metrics, microperimetry, ERG, FAF, mobility course, MRDQ, PGI scales). (NCT05573984 chunk 1, NCT05573984a chunk 1)

• Preclinical PRPF31 gene augmentation:

• In a CRISPR/Cas9 AAV-induced Prpf31 KO mouse model, AAV-mediated PRPF31 augmentation restored retinal structure and function, supporting gene augmentation as a broadly applicable approach for haploinsufficiency. (xi2022geneaugmentationprevents pages 1-2)

• In human iPSC-derived RPE and retinal organoids with PRPF31 mutations, gene augmentation and CRISPR correction rescued RPE and photoreceptor phenotypes. (rodrigues2022modelingprpf31retinitis pages 1-2)

• Precision RNA therapy (ASO exon skipping; 2024): exon 12 skipping increased PRPF31 mRNA ~1.7-fold in patient fibroblasts and was proposed to meet a therapeutic expression threshold inferred from a non-penetrant carrier. (grainok2024aprecisiontherapy pages 2-4)

• Supportive mechanistic therapy (autophagy activation): rapamycin reduced aggregates and improved survival in patient-derived iPSC-RPE/retinal models, proposed as a combinable strategy with gene therapy. (georgiou2022activationofautophagy pages 1-3)

MAXO (suggested) mappings: - Gene therapy / gene augmentation (e.g., AAV-mediated gene delivery) - Antisense oligonucleotide therapy - Intravitreal injection - Supportive pharmacotherapy (autophagy induction)

Table: This table summarizes PRPF31-focused therapeutic development and clinical studies, including VP-001 interventional trials, observational natural history studies, and major preclinical strategies. It is useful for quickly comparing modality, development stage, enrollment, dates, and endpoints across the PRPF31-RP11 landscape.

13. Prevention

Primary prevention is not currently feasible for a Mendelian autosomal dominant disease aside from reproductive options; the retrieved sources emphasize genetic diagnosis and natural history characterization rather than prevention interventions. (rose2016varianthaploinsufficiencyand pages 1-2, NCT05573984 chunk 1)

Secondary prevention in practice corresponds to early detection in at-risk relatives and longitudinal monitoring with structural/functional testing as used in natural history and clinical trial protocols. (NCT05573984 chunk 1, NCT06368375 chunk 1)

14. Other species / natural disease

No naturally occurring PRPF31-related retinopathy in non-human species was identified in the retrieved evidence.

15. Model organisms

15.1 In vitro human models

• Patient-derived retinal organoids + RPE: transcriptome profiling demonstrates retina-specific mis-splicing and RPE functional deficits, and gene editing can rescue key cellular phenotypes. (buskin2018disruptedalternativesplicing pages 1-2)
• iPSC-RPE/retinal organoids: recapitulate rod death followed by cone loss, with phenotypic rescue by gene augmentation and CRISPR correction; low PRPF31 expression correlates with disease phenotypes and is absent in asymptomatic carrier-derived cells. (rodrigues2022modelingprpf31retinitis pages 1-2)
• Proteostasis/autophagy pathology in iPSC-derived RPE/retina: aggregate accumulation and rapamycin responsiveness support autophagy involvement. (georgiou2022activationofautophagy pages 1-3)

15.2 In vivo animal models

• AAV-CRISPR/Cas9-induced Prpf31 KO mouse: achieves ~57% editing efficiency and produces progressive retinal degeneration with structural loss (IS/OS and ONL) and severely reduced ERG responses over weeks. (xi2022geneaugmentationprevents pages 3-4)
• Gene augmentation in the mouse model: AAV-mediated PRPF31 supplementation restored retinal structure and function (in vivo proof-of-concept). (xi2022geneaugmentationprevents pages 1-2)

Data gaps and limitations of the current evidence set

• Disease identifiers (OMIM/Orphanet/ICD/MeSH/MONDO) and PMIDs were not available in the retrieved text snippets, so they cannot be provided as evidence-grounded fields here.
• Population-level prevalence/incidence specifically for PRPF31-RP11 (as opposed to RP overall or PRPF31 share of adRP) was not retrieved.
• Detailed clinical guideline-based diagnostic algorithms and differential diagnosis lists were not present in retrieved sources.

URLs and publication dates (selected key sources)

• Buskin et al., Nature Communications (2018-10). https://doi.org/10.1038/s41467-018-06448-y (buskin2018disruptedalternativesplicing pages 1-2)
• Rose & Bhattacharya, Clinical Genetics (2016-08). https://doi.org/10.1111/cge.12758 (rose2016varianthaploinsufficiencyand pages 1-2)
• Rodrigues et al., NPJ Regenerative Medicine (2022-08). https://doi.org/10.1038/s41536-022-00235-6 (rodrigues2022modelingprpf31retinitis pages 1-2)
• Georgiou et al., Clinical and Translational Medicine (2022-03). https://doi.org/10.1002/ctm2.759 (georgiou2022activationofautophagy pages 1-3)
• Xi et al., Nature Communications (2022-12). https://doi.org/10.1038/s41467-022-35361-8 (xi2022geneaugmentationprevents pages 1-2)
• Varela et al., British Journal of Ophthalmology (2023-08). https://doi.org/10.1136/bjo-2022-321903 (varela2023genetictreatmentfor pages 6-9)
• Grainok et al., International Journal of Molecular Sciences (2024-03). https://doi.org/10.3390/ijms25063391 (grainok2024aprecisiontherapy pages 2-4)
• ClinicalTrials.gov: NCT05902962 (2023; Platypus). https://clinicaltrials.gov/study/NCT05902962 (NCT05902962 chunk 1)
• ClinicalTrials.gov: NCT06455826 (2024; Wallaby). https://clinicaltrials.gov/study/NCT06455826 (NCT06455826a chunk 1)
• ClinicalTrials.gov: NCT05573984 (2022; natural history). https://clinicaltrials.gov/study/NCT05573984 (NCT05573984 chunk 1)
• ClinicalTrials.gov: NCT06368375 (2023; Tübingen phenotyping). https://clinicaltrials.gov/study/NCT06368375 (NCT06368375 chunk 1)

References

1. (rose2016varianthaploinsufficiencyand pages 1-2): A. M. Rose and Shomi S. Bhattacharya. Variant haploinsufficiency and phenotypic non‐penetrance in prpf31‐associated retinitis pigmentosa. Clinical Genetics, 90:118-126, Aug 2016. URL: https://doi.org/10.1111/cge.12758, doi:10.1111/cge.12758. This article has 86 citations and is from a peer-reviewed journal.

2. (grainok2024aprecisiontherapy pages 2-4): Janya Grainok, Ianthe L. Pitout, Fred K. Chen, Samuel McLenachan, Rachael C. Heath Jeffery, Chalermchai Mitrpant, and Sue Fletcher. A precision therapy approach for retinitis pigmentosa 11 using splice-switching antisense oligonucleotides to restore the open reading frame of prpf31. International Journal of Molecular Sciences, 25:3391, Mar 2024. URL: https://doi.org/10.3390/ijms25063391, doi:10.3390/ijms25063391. This article has 14 citations.

3. (rodrigues2022modelingprpf31retinitis pages 1-2): Amélie Rodrigues, Amélie Slembrouck-Brec, Céline Nanteau, Angélique Terray, Yelyzaveta Tymoshenko, Yvrick Zagar, Sacha Reichman, Zhouhuan Xi, José-Alain Sahel, Stéphane Fouquet, Gael Orieux, Emeline F. Nandrot, Leah C. Byrne, Isabelle Audo, Jérôme E. Roger, and Olivier Goureau. Modeling prpf31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue. NPJ Regenerative Medicine, Aug 2022. URL: https://doi.org/10.1038/s41536-022-00235-6, doi:10.1038/s41536-022-00235-6. This article has 71 citations and is from a peer-reviewed journal.

4. (NCT05902962 chunk 1): SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects. PYC Therapeutics. 2023. ClinicalTrials.gov Identifier: NCT05902962

5. (buskin2018disruptedalternativesplicing pages 1-2): Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, and Majlinda Lako. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes prpf31 retinitis pigmentosa. Nature Communications, Oct 2018. URL: https://doi.org/10.1038/s41467-018-06448-y, doi:10.1038/s41467-018-06448-y. This article has 254 citations and is from a highest quality peer-reviewed journal.

6. (NCT05573984 chunk 1): Natural History of PRPF31 Mutation-Associated Retinal Dystrophy. PYC Therapeutics. 2022. ClinicalTrials.gov Identifier: NCT05573984

7. (NCT06368375 chunk 1): Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa. University Hospital Tuebingen. 2023. ClinicalTrials.gov Identifier: NCT06368375

8. (georgiou2022activationofautophagy pages 1-3): Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan‐Ting Pan, Adriana Buskin, Marina Moya Molina, Joseph Collin, Jumana Al‐Aama, Franziska Goertler, Sebastian E. J. Ludwig, Tracey Davey, Reinhard Lührmann, Sushma Nagaraja‐Grellscheid, Colin A. Johnson, Robin Ali, Lyle Armstrong, Viktor Korolchuk, Henning Urlaub, Sina Mozaffari‐Jovin, and Majlinda Lako. Activation of autophagy reverses progressive and deleterious protein aggregation in prpf31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells. Clinical and Translational Medicine, Mar 2022. URL: https://doi.org/10.1002/ctm2.759, doi:10.1002/ctm2.759. This article has 30 citations and is from a peer-reviewed journal.

9. (xi2022geneaugmentationprevents pages 1-2): Zhouhuan Xi, Abhishek Vats, José-Alain Sahel, Yuanyuan Chen, and Leah C. Byrne. Gene augmentation prevents retinal degeneration in a crispr/cas9-based mouse model of prpf31 retinitis pigmentosa. Nature Communications, Dec 2022. URL: https://doi.org/10.1038/s41467-022-35361-8, doi:10.1038/s41467-022-35361-8. This article has 42 citations and is from a highest quality peer-reviewed journal.

10. (varela2023genetictreatmentfor pages 6-9): Malena Daich Varela, Anastasios Georgiadis, and Michel Michaelides. Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes. British Journal of Ophthalmology, 107:1223-1230, Aug 2023. URL: https://doi.org/10.1136/bjo-2022-321903, doi:10.1136/bjo-2022-321903. This article has 33 citations and is from a highest quality peer-reviewed journal.

11. (lan2022a69kb pages 9-12): Yuanzheng Lan, Yuhong Chen, Yunsheng Qiao, Qingdan Xu, Ruyi Zhai, Xinghuai Sun, Jihong Wu, and Xueli Chen. A 69 kb deletion in chr19q13.42 including prpf31 gene in a chinese family affected with autosomal dominant retinitis pigmentosa. Journal of Clinical Medicine, 11:6682, Nov 2022. URL: https://doi.org/10.3390/jcm11226682, doi:10.3390/jcm11226682. This article has 2 citations.

12. (NCT05573984a chunk 1): Natural History of PRPF31 Mutation-Associated Retinal Dystrophy. PYC Therapeutics. 2022. ClinicalTrials.gov Identifier: NCT05573984

13. (xi2022geneaugmentationprevents pages 3-4): Zhouhuan Xi, Abhishek Vats, José-Alain Sahel, Yuanyuan Chen, and Leah C. Byrne. Gene augmentation prevents retinal degeneration in a crispr/cas9-based mouse model of prpf31 retinitis pigmentosa. Nature Communications, Dec 2022. URL: https://doi.org/10.1038/s41467-022-35361-8, doi:10.1038/s41467-022-35361-8. This article has 42 citations and is from a highest quality peer-reviewed journal.

14. (NCT06455826 chunk 1): MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby). PYC Therapeutics. 2024. ClinicalTrials.gov Identifier: NCT06455826

15. (NCT06455826a chunk 1): MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby). PYC Therapeutics. 2024. ClinicalTrials.gov Identifier: NCT06455826

16. (NCT05573984a chunk 2): Natural History of PRPF31 Mutation-Associated Retinal Dystrophy. PYC Therapeutics. 2022. ClinicalTrials.gov Identifier: NCT05573984

17. (NCT05573984 chunk 2): Natural History of PRPF31 Mutation-Associated Retinal Dystrophy. PYC Therapeutics. 2022. ClinicalTrials.gov Identifier: NCT05573984

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