Albinism is caused by melanin production defect. Albinism, a clinically and genetically heterogeneous group of diseases, is developed as a result of genetic defects in the process of normal melaninogenesis

Albinism

Done by: Salman Saleh

Group: 2

Albinism is caused by melanin production defect. Albinism, a clinically and genetically heterogeneous group of diseases, is developed as a result of genetic defects in the process of normal melaninogenesis.
Etiology: tyrosinase deficiency, the disorder transport protein function, melanocyte migration or the loss of pigment stem cells in the early stages of embryogenesis. The disease frequency: 1:10000 - 1:120000.
Albinism type I, tyrosinase-negative, oculocutaneous: the type inheritance is
AR. Presumably the gene is localized on chromosome 11. Clinically, the disease manifests with pale skin, white hair, light blue iris. Ocular symptomatology is presented by nystagmus, photophobia, blurred vision, conjunctivitis, blepharitis, sometimes cataract and retinitis.
Fundus picture: transparent sclera with browsing choroidal vessels, hypoplasia of the macula, unexpressed central fovea of ​​retina.
Specific treatment hasn’t been developed.