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Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
Biomarker and diagnostic research for oculocutaneous albinism type 1 has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for oculocutaneous albinism type 1.
19 publications have been identified in PubMed for oculocutaneous albinism type 1. Research spans Basic Science / Preclinical (72%), Case Report / Case Series (17%), and Diagnostic / Biomarker (6%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 13 | 72% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 3:42 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
3 |
17% |
Testing and diagnosis research | 1 | 6% |
Disease patterns and progression | 1 | 6% |
Moro-Muniz M (2026). [PMID: 42177986](https://pubmed.ncbi.nlm.nih.gov/42177986/). *Arch Soc Esp Oftalmol (Engl Ed)*. [Case Report / Case Series]
Froment A (2026). [PMID: 41521385](https://pubmed.ncbi.nlm.nih.gov/41521385/). *Pigment cell & melanoma research*. [Case Report / Case Series]
Kriebel WG (2026). [PMID: 41872298](https://pubmed.ncbi.nlm.nih.gov/41872298/). *Sci Rep*. [Basic Science / Preclinical]
Dolinska MB (2026). [PMID: 41752073](https://pubmed.ncbi.nlm.nih.gov/41752073/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Lv S (2025). [PMID: 40252993](https://pubmed.ncbi.nlm.nih.gov/40252993/). *The Journal of investigative dermatology*. [Diagnostic / Biomarker]
Toay S (2025). [PMID: 40671279](https://pubmed.ncbi.nlm.nih.gov/40671279/). *Protein science : a publication of the Protein Society*. [Basic Science / Preclinical]
Jacinto JGP (2025). [PMID: 40913728](https://pubmed.ncbi.nlm.nih.gov/40913728/). *Molecular genetics and genomics : MGG*. [Basic Science / Preclinical]
Toay S (2025). [PMID: 40568124](https://pubmed.ncbi.nlm.nih.gov/40568124/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Gale J (2025). [PMID: 40132921](https://pubmed.ncbi.nlm.nih.gov/40132921/). *BMJ case reports*. [Case Report / Case Series]
Toay S (2025). [PMID: 39840795](https://pubmed.ncbi.nlm.nih.gov/39840795/). *Protein science : a publication of the Protein Society*. [Basic Science / Preclinical]