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Features include always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Macular degeneration, and Reduced visual acuity and others. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Macular degeneration, Cystoid macular edema, Optic disc pallor |
RP1L1 function has not been fully characterized.
Retinitis pigmentosa 88 is associated with mutations in the RP1L1 gene on chromosome 8.
Genetic testing for RP1L1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for retinitis pigmentosa 88 has been reported in the published literature.
Phenotype severity distribution: 7 always present features.
No clinical trials have been registered for retinitis pigmentosa 88.
27 publications have been identified in PubMed for retinitis pigmentosa 88. Research spans Epidemiology / Natural History (37%), Diagnostic / Biomarker (22%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 10 | 37% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:15 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1 |
Bone spicule pigmentation of the retina |
Age of onset: childhood.
Testing and diagnosis research
6 |
22% |
Laboratory research | 4 | 15% |
Research summaries | 2 | 7% |
Patient case studies | 2 | 7% |
Clinical study results | 2 | 7% |
Other research | 1 | 4% |
Tang W (2026). [PMID: 41729366](https://pubmed.ncbi.nlm.nih.gov/41729366/). *Int Ophthalmol*. [Clinical Trial Publication]
Hong Y (2026). [PMID: 41242591](https://pubmed.ncbi.nlm.nih.gov/41242591/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Liu Y (2026). [PMID: 41448483](https://pubmed.ncbi.nlm.nih.gov/41448483/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Rubegni G (2026). [PMID: 41057106](https://pubmed.ncbi.nlm.nih.gov/41057106/). *Am J Ophthalmol*. [Other]
Bernat-Just L (2026). [PMID: 42070642](https://pubmed.ncbi.nlm.nih.gov/42070642/). *Eur J Pharm Sci*. [Basic Science / Preclinical]
Ruggeri ML (2026). [PMID: 42011186](https://pubmed.ncbi.nlm.nih.gov/42011186/). *Ther Adv Ophthalmol*. [Epidemiology / Natural History]
Koyanagi Y (2025). [PMID: 41353252](https://pubmed.ncbi.nlm.nih.gov/41353252/). *NPJ Genom Med*. [Epidemiology / Natural History]
D'Esposito F (2025). [PMID: 40149483](https://pubmed.ncbi.nlm.nih.gov/40149483/). *Genes (Basel)*. [Review / Meta-Analysis]
Demir Ş (2025). [PMID: 41219488](https://pubmed.ncbi.nlm.nih.gov/41219488/). *Eur J Pediatr*. [Epidemiology / Natural History]
Amorim AM (2025). [PMID: 39049080](https://pubmed.ncbi.nlm.nih.gov/39049080/). *Ear Hear*. [Diagnostic / Biomarker]