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]

Overview

Ocular physical examination findings include refractive errors, strabismus, nystagmus, foveal hypoplasia, iris transillumination, decreased iris pigmentation. Cutaneous finding varies from white to hypopigmented or light brown skin, hair, eyebrow, and eyelashes.

Physical Examination

• Common physical examination findings of albinism include white or hypo-pigmented hair, skin, and eyelashes
• 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 to tan skin, yellow, blond, or light brown hair, eyebrow, eyelashes, blue, hazel, brown or gray irides, visual acuity ranges from 20/25 to 20/200
    • 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
  • OCA3:
    • Known as red/rufous OCA, light brown or reddish brown skin and hair, blue-brown irides, and undetactable visual impairment
  • OCA 4:
    • Similar to classic OCA2 and visual acuity ranges from 20/30 to 20/400; usually 20/100 to 20/200
  • OCA5:
    • White skin and golden hair, nystagmus,photophobia, foveal hypoplasia, and impaired visual acuity are present
  • OCA6:
    • White skin and light hair, brown irides, mild nystagmus, foveal hypoplasia, and mild photophobia are present along with visual acuity of 20/100.
  • OCA7:
    • Lighter skin color compared to family members, light blond to dark brown hair, nystagmus, foveal hypoplasia, iris transillumination are present alon with visual acuity of 20/30 to 20/400
  • Hermansky-Pudlak syndrome (HPS):
    • White to olive skin, white to brown hair, hypopigmented irides along with nystagmus, foveal hypoplasia, iris transillumination and visual acuity of 20/50 to 20/400
    • Individuals with HPS might have bleeding disorders due to platelet dysfucntion, kidney and lung abnormalities, immunodeficiency and hemophagocytic syndrome, pulmonary fibrosis, and granulomatous colitis
  • Chediak-Higashi syndrome (CHS):
    • OCA symptoms along with pyogenic infections, neutropenia, peripheral neuropathy, and coagulopathy
  • Angelman syndrome and Prader-Willi syndrome:
    • Indiviuals have hypopigmented skin and hair compared to members of family, if ocular findings are present, it is associated with OCA2
  • Ocular albinism (OA1):
    • Hypopigmentation is only present in eyes along with nystagmus, foveal hypoplasia, photophobia and visual acuity ranges from 20/100 to 20/200
    • Since OA1 is X-linked disorder, males have complete phenotype while females rarely develope nystagmus and low vision

Appearance of the Patient

• Patients with albinism usually have white or hypo-pigmented hair, skin, and eyelashes

Vital Signs

• Vital signs of patients with albinism are within normal limit

Skin

• Skin examination of patients with albinism is usually remarkable for white or hypo-pigmented skin

HEENT

• Ocular physical examination findings include:
  • Refractive errors; astigmatism, myopia, hyperopia
  • 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

Neck

• Neck examination of patients with albinism is usually normal

Lungs

• Pulmonary examination of patients with albinism is usually normal

Heart

• Cardiovascular examination of patients with albinism is usually normal

Abdomen

• Abdominal examination of patients with albinism is usually normal

Back

• Back examination of patients with albinism is usually normal

Genitourinary

• Genitourinary examination of patients with albinism is usually normal

Neuromuscular

• Neuromuscular examination of patients with albinism is usually normal

Extremities

• Extremities examination of patients with [[[albinism]] is usually normal