Features include always present findings: Hypopigmentation of hair, Nystagmus, Iris transillumination defect, and Hypopigmentation of the skin and others; and common findings: Photophobia and Hypoplasia of the fovea.

DCT encodes dopachrome tautomerase (519 aa). Plays a role in melanin biosynthesis. Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA) Highest expression in Skin Sun Exposed Lower leg (24.2 TPM) and Skin Not Sun Exposed Suprapubic (23.2 TPM).

Oculocutaneous albinism type 8 is associated with mutations in the DCT gene on chromosome 13.

DCT is classified as a druggable target (Druggable Genome category) with score 4.4.

Genetic testing for DCT is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for oculocutaneous albinism type 8 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for oculocutaneous albinism type 8.

12 publications have been identified in PubMed for oculocutaneous albinism type 8. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (25%), and Diagnostic / Biomarker (17%).