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Oculocutaneous albinism in Child
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Oculocutaneous albinism in Child

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Contributors: Edward Li PhD, Thuraya Isaacs MBChB, MFamMed, FCDerm, MMed, Ncoza C. Dlova MBChB, FCDerm, PhD, Anisa Mosam MBChB, MMed, FCDerm, PhD, Susan Burgin MD
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Synopsis

Oculocutaneous albinism (OCA) presents with lack of pigment to the skin, hair, and retina. OCA represents a group of autosomal recessive disorders with dilution or absence of melanin. They are a set of lifelong conditions caused by abnormalities in tyrosinase or enzymes that catalyze several steps in the biosynthesis and distribution of melanin.

The worldwide prevalence is estimated at 1:17,000. All patients with albinism have an increased risk of contracting skin cancers.

Albinism is currently classified as OCA types 1-7, as well as ocular albinism (OA), Chediak-Higashi syndrome (associated with platelet dysfunction with easy bruising and bleeding, a T-cell dysfunction associated with bacterial infections, cancer risks, and neurodegenerative disorders), and Hermansky-Pudlak syndrome (rare except in Puerto Rico; associated with platelet abnormalities and ceroid storage disease that leads to granulomatous colitis, pulmonary fibrosis, and other organ failures). The genes associated with OCA1-7 are listed below.
  • OCA1: TYR – tyrosinase
  • OCA2: OCA2 – P gene
  • OCA3: TYRP1 – tyrosinase-related protein 1
  • OCA4: SLC45A2 – solute carrier family 45 member 2
  • OCA5: mapped to chromosome 4q24
  • OCA6: SLC24A5 – solute carrier family 24 member 5
  • OCA7: LRMDA – leucine-rich melanocyte differentiation associated
OCA1 is the most common subtype found in individuals of Northern European descent (50% of cases). OCA2 accounts for 30% of cases worldwide and is the most common cause of OCA in Africa. OCA3 is virtually unseen in individuals of Northern European descent but accounts for 3% of cases worldwide. OCA4 is rare in individuals of Northern European descent and in African populations, but accounts for 17% of cases worldwide, especially in Asia.

Pigmentary dilution of skin and hair occurs in all patients, but the degree of hypopigmentation varies with each type of albinism.

Ocular changes of OCA and OA include nystagmus, reduced visual acuity, strabismus, iris translucency, absent or reduced pigment of the retinal pigment epithelium, misrouting of the optic nerves, foveal hypoplasia, and photophobia.

Codes

ICD10CM:
E70.30 – Albinism, unspecified

SNOMEDCT:
15890002 – Albinism

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Last Reviewed: 06/11/2018
Last Updated: 06/28/2018
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Oculocutaneous albinism in Child
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Oculocutaneous albinism : Nystagmus, Photosensitivity, Present at birth, Loss of pigment
Clinical image of Oculocutaneous albinism
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