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Features include always present findings: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, and Hypoautofluorescent retinal lesion and others; and common findings: Perifoveal ring of hyperautofluorescence, High myopia, and Moderate myopia. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Hypoautofluorescent retinal lesion, Macular edema, Optic disc pallor |
Biomarker and diagnostic research for retinitis pigmentosa 100 has been reported in the published literature.
Phenotype severity distribution: 8 always present features, 3 common features.
No clinical trials have been registered for retinitis pigmentosa 100.
65 publications have been identified in PubMed for retinitis pigmentosa 100. Kisho has analyzed 26 by research type. Research spans Epidemiology / Natural History (38%), Basic Science / Preclinical (15%), and Review / Meta-Analysis (12%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 10 | 38% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:07 PM UTC
Online Mendelian Inheritance in Man
Bones and joints | 1 | Bone spicule pigmentation of the retina |
Brain and nerves | 1 | Global developmental delay |
Laboratory research |
4 |
15% |
Research summaries | 3 | 12% |
Patient case studies | 3 | 12% |
Clinical study results | 3 | 12% |
New treatment approaches | 2 | 8% |
Testing and diagnosis research | 1 | 4% |
Brunet AA (2026). [PMID: 41595729](https://pubmed.ncbi.nlm.nih.gov/41595729/). *Biomedicines*. [Basic Science / Preclinical]
Ruggeri ML (2026). [PMID: 42011186](https://pubmed.ncbi.nlm.nih.gov/42011186/). *Ther Adv Ophthalmol*. [Epidemiology / Natural History]
Cedrún-Sánchez JE (2025). [PMID: 40869485](https://pubmed.ncbi.nlm.nih.gov/40869485/). *J Clin Med*. [Epidemiology / Natural History]
Hoy SM (2025). [PMID: 40540142](https://pubmed.ncbi.nlm.nih.gov/40540142/). *Mol Diagn Ther*. [Review / Meta-Analysis]
Chacon-Camacho OF (2025). [PMID: 40638000](https://pubmed.ncbi.nlm.nih.gov/40638000/). *Int Ophthalmol*. [Case Report / Case Series]
Sun HN (2025). [PMID: 39988772](https://pubmed.ncbi.nlm.nih.gov/39988772/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]
Park HS (2025). [PMID: 40296824](https://pubmed.ncbi.nlm.nih.gov/40296824/). *J Korean Med Sci*. [Clinical Trial Publication]
Stephenson KAJ (2025). [PMID: 40607868](https://pubmed.ncbi.nlm.nih.gov/40607868/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Zhang PW (2025). [PMID: 39875939](https://pubmed.ncbi.nlm.nih.gov/39875939/). *J Neuroinflammation*. [Basic Science / Preclinical]
Daich Varela M (2025). [PMID: 39615819](https://pubmed.ncbi.nlm.nih.gov/39615819/). *Am J Ophthalmol*. [Case Report / Case Series]