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

Appearance of the Patient

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

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


References

  1. Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE (2003). "The clinical features of albinism and their correlation with visual evoked potentials". Br J Ophthalmol. 87 (6): 767–72. doi:10.1136/bjo.87.6.767. PMC 1771702. PMID 12770978.
  2. Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet J Rare Dis. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
  3. "Albinism - StatPearls - NCBI Bookshelf".

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