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Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
No clinical trials have been registered for ocular albinism.
50 publications have been identified in PubMed for ocular albinism. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (30%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 19 | 38% |
Data assembled from 3 of 12 sources · Last updated Oct 3, 2026, 7:30 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
15 |
30% |
Disease patterns and progression | 10 | 20% |
Research summaries | 4 | 8% |
New treatment approaches | 2 | 4% |
Wang MY (2026). [PMID: 42166140](https://pubmed.ncbi.nlm.nih.gov/42166140/). *JAMA Ophthalmol*. [Case Report / Case Series]
De Pace R (2026). [PMID: 41887224](https://pubmed.ncbi.nlm.nih.gov/41887224/). *Am J Hum Genet*. [Basic Science / Preclinical]
Goshima Y (2026). [PMID: 41510670](https://pubmed.ncbi.nlm.nih.gov/41510670/). *Neuropsychopharmacology reports*. [Case Report / Case Series]
Moreno-Artero E (2026). [PMID: 42044741](https://pubmed.ncbi.nlm.nih.gov/42044741/). *Presse Med*. [Epidemiology / Natural History]
Farooq M (2026). [PMID: 41807736](https://pubmed.ncbi.nlm.nih.gov/41807736/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Fernandes M (2026). [PMID: 41672656](https://pubmed.ncbi.nlm.nih.gov/41672656/). *Chest*. [Basic Science / Preclinical]
Froment A (2026). [PMID: 41521385](https://pubmed.ncbi.nlm.nih.gov/41521385/). *Pigment cell & melanoma research*. [Case Report / Case Series]
Vienne-Jumeau A (2026). [PMID: 41787022](https://pubmed.ncbi.nlm.nih.gov/41787022/). *Eye (London, England)*. [Epidemiology / Natural History]
Moreno-Artero E (2026). [PMID: 42055276](https://pubmed.ncbi.nlm.nih.gov/42055276/). *Presse Med*. [Epidemiology / Natural History]
Okamura K (2026). [PMID: 41127964](https://pubmed.ncbi.nlm.nih.gov/41127964/). *The Journal of dermatology*. [Epidemiology / Natural History]