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Albinism P008

Document
Last amended 
29 April 2021
Current RMA Instruments
Reasonable Hypothesis SOP19 of 2015
Balance of Probabilities SOP 20 of 2015
Changes from previous Instruments

SOP Bulletin 114

ICD Coding
  • ICD-9-CM Codes: 270.21
  • ICD-10-AM Codes: E70.3
Brief description

Albinism covers a group of autosomal recessive genetic disorders, causing absent or decreased melanin production, resulting in decreased pigmentation of the hair, skin and eyes.  Additionally the eyes are functionally affected with poor visual acuity, sensitivity to light, nystagmus and strabismus. The pattern of disease can manifest primarily in the eyes (ocular albinism) or can affect the eyes and skin (oculocutaneous albinism). A lack of melanin causes high risk for the development of solar keratoses and skin cancers.

Confirming the diagnosis

The diagnosis can be made on clinical grounds, but genetic testing is usually performed to allow a precise diagnosis of the particular genetic variant.

The relevant medical specialist is a paediatrician or a geneticist.

Additional diagnoses covered by SOP
  • ocular albinism
  • oculocutaneous albinism
Clinical onset

The condition is manifest at birth but may not be diagnosed until sometime later in early childhood.

Clinical worsening

The genetic abnormality cannot be made worse.  There is no disease modifying treatment available.  Management involves strict sun protection beginning from infancy to avoid development of skin cancer and treatment of eye problems such as refractive errors with glasses or contact lenses.