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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

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Europe PMC · from cache · sorted by publication date

  1. 1
    Public opinion survey on heritable human genome editing in South Africa: a study protocol.

    Pillay S, Thaldar D. · 2026-01-02

    open access unreviewed
  2. 2
    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
  3. 3
    Living in the sun's shadow: Skin cancer and albinism in Senegal.

    Mazzetto R, Cipriani L, Astou T, Pedrazzi T, Fortina AB, Piaserico S. · 2026-04-27

    open access unreviewed
  4. 4
    Dual molecular diagnosis of TYR-related oculocutaneous albinism type 1 and FBN1-associated Marfan syndrome: A novel case with ocular and systemic correlations.

    Moro-Muniz M, Ortiz Seller A, Sanz Marco E. · 2026-05-23

    unreviewed
  5. 5
    A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish.

    Xing Y, Boswell W, Parker J, Du K, Schartl M, Lu Y. · 2026-07-01

    unreviewed
  6. 6
    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

    unreviewed
  7. 7
    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
  8. 8
    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

    unreviewed
  9. 9
    Acute hydrops in late-presentation keratoconus associated with oculocutaneous albinism.

    Rajasekar G, Behera G, Natarajan K, Kurup PS. · 2026-07-01

    unreviewed
  10. 10
    Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients.

    Wang DT, Antonio-Aguirre B, Ruggeri ML, Smith CH, Guthrie KS, Applegate CD, Pan A, Mehta SP, Dreger KA, Ahmed… · 2026-05-08

    open access unreviewed

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