Skip to content
MS
Sign in
TYR AR unreviewed

Oculocutaneous albinism

Melanin synthesis

Enzyme or protein defect

Tyrosinase

Accumulates or becomes deficient

Absent melanin

Key features

Hypopigmentation of skin/hair/eyes, photophobia, nystagmus, high skin cancer risk

Management

Sun protection

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

Refresh

Europe PMC · fetched just now · sorted by publication date

  1. 1
    Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.

    Mu J, Sun M, Li Y, Li P, Zou H. · 2026-07-09

    open access unreviewed
  2. 2
    Public opinion survey on heritable human genome editing in South Africa: a study protocol.

    Pillay S, Thaldar D. · 2026-01-02

    open access unreviewed
  3. 3
    Transcriptomic analyses link changes in gene expression to defects in pigment cell differentiation and eye morphogenesis in a zebrafish model for Oculocutaneous Albinism Type 2.

    Krilanovich TM, McCarthy JR, Vernon S, Driskell R, Cerveny KL, Cooper CD. · 2026-07-16

    unreviewed
  4. 4
    Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.

    Derar MAM, Yu J, Watson CM, McKibbin M, Bell SM, Inglehearn CF, Toomes C. · 2026-07-20

    cited 1× open access unreviewed
  5. 5
    The Role of SLC24A5 (NCKX5) in Human Skin Pigmentation: The Importance of Cation Transport Activity.

    Rogasevskaia T, Jalloul AH, Szerencsei RT, Major D, Visser F, Schnetkamp PPM. · 2026-07-16

    unreviewed
  6. 6
    The relationship between foveal anatomy and retinal function in oculocutaneous albinism.

    Balakrishnan U, Wynne N, Pfeifer W, Woertz E, Carroll J, Drack AV. · 2026-07-03

    open access unreviewed
  7. 7
    The Key Diagnostic Role of Morphology: Rheumatoid Arthritis With MYH9 -Related Disorder.

    Wang X, Lian X, Duan H, Wang Y, Yang Y, Sun Y, Hao J. · 2026-04-22

    unreviewed
  8. 8
    Ciliary regulation of melanogenesis unveils moonlighting roles for Joubert Syndrome proteins

    · 2026-09-28

    open access unreviewed
  9. 9
    MC1R variants in four Chinese children with red hair and hypopigmentation.

    Zhang Y, Huang Q, Chen X, Hu X, Wei A. · 2026-09-30

    unreviewed
  10. 10
    Early Molecular Testing for Presumptive Genetic Eye Diseases.

    Ibarra-Ramírez M, Mohamed-Noriega J, Arenas-Estala J, Rodríguez-Torres DA, Campos-Acevedo LD, Fernández-de-Lu… · 2026-09-10

    open access unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.