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oculocutaneous albinism type 1A (OCA1A) - Clinical Profile, Genes & Research | Kisho | Kisho

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for oculocutaneous albinism type 1A.

35 publications have been identified in PubMed for oculocutaneous albinism type 1A. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (29%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	15	43%
Patient case studies	10	29%
Disease patterns and progression	5	14%
New treatment approaches	3	9%
Testing and diagnosis research	1	3%
Research summaries	1	3%

Recent Publications

Dolinska MB (2026). [PMID: 41752073](https://pubmed.ncbi.nlm.nih.gov/41752073/). *International journal of molecular sciences*. [Basic Science / Preclinical]
George A (2026). [PMID: 42137598](https://pubmed.ncbi.nlm.nih.gov/42137598/). *Mol Ther Adv*. [Gene Therapy / Novel Therapeutics]
Rooks E (2026). [PMID: 41452597](https://pubmed.ncbi.nlm.nih.gov/41452597/). *JAMA ophthalmology*. [Case Report / Case Series]
Farooq M (2026). [PMID: 41807736](https://pubmed.ncbi.nlm.nih.gov/41807736/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Eager KLM (2026). [PMID: 42101288](https://pubmed.ncbi.nlm.nih.gov/42101288/). *Anim Genet*. [Basic Science / Preclinical]
Amagata Y (2026). [PMID: 41606791](https://pubmed.ncbi.nlm.nih.gov/41606791/). *Clinical and experimental dermatology*. [Case Report / Case Series]
Montané C (2026). [PMID: 42083716](https://pubmed.ncbi.nlm.nih.gov/42083716/). *Cureus*. [Case Report / Case Series]
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*. [Basic Science / Preclinical]
Shihab RN (2025). [PMID: 40860304](https://pubmed.ncbi.nlm.nih.gov/40860304/). *Clinical case reports*. [Case Report / Case Series]

Organ System	Phenotype Count	Example Features
Eyes	5	Strabismus, Nystagmus, Ocular albinism
Skin	5	Absent skin pigmentation, Thickened, rough skin (hyperkeratosis), Hypopigmentation of the skin

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oculocutaneous albinism type 1A

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Recent Publications

oculocutaneous albinism type 1A

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications