Albinism physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

Physical Examination

• Ocular physical examination findings include:
  • Refractive errors
  • Strabismus
  • Nystagmus
    • Exacerbated by pain, illness, anxiety, fatigue, and covering one eye
  • Foveal hypoplasia
  • Iris transillumination
  • Decreased iris pigmentation which varies from pink eyes to light blue, green, gray, or light brown
  • Yellow to orange retina due to decreased melanosis of the retinal epithelium
• The specific findings of each subtype of albinism are as follows:
• Oculocutaneous albinism 1 (OCA1:
  • Type A; complete absence of melanin, patients have white skin, white hair, nystagmus, foveal hypoplasia, light-colored, pink or red irides, iris translumination, and visual acuity of 20/100 to 20/400
  • Type B; some tyrosine function reserved, patients have yellow to light brown skin, hazel, or light brown irides, and visual acuity of 20/100 to 20/200.
• OCA2:
  • Classic OCA2: Creamy white skin or tan skin, yellow, blond, or light brown
  • Brown OCA2 : Brown skin, hair, and eyes; patients are hypo pigmented compared to family members
  • Red OCA2: Red hair, light-colored eyes along with vision problems