Ocular Manifestations of Albinism Differential Diagnoses

Updated: Dec 11, 2019
  • Author: Mohammed O Peracha, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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DDx

Diagnostic Considerations

Oculocutaneous albinism and ocular albinism should be distinguished from other disease entities that can present with cutaneous and ocular hypopigmentation, to include the following:

  • Aland Island eye disease (Forsius-Eriksson syndrome)

  • Cross-McKusick-Breen syndrome

  • Waardenburg syndrome

  • Prader-Willi syndrome

  • Angelman syndrome

  • Vitiligo

  • Congenital nystagmus

  • Achromatopsia

  • Piebaldism

  • Kallmann syndrome

  • Chondrodysplasia punctata

  • Vici syndrome [9]

Foveal hypoplasia can be present in aniridia and retinopathy of prematurity.

Iris transillumination defects can be present in pseudoexfoliation syndrome, pigment dispersion syndrome, and uveitis.

Differential Diagnoses