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Albinism P008

Document
Last amended 
30 June 2015

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

This is an autosomal recessive genetic disorder of the body with absent or decreased melanin production, leading to 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). The lack of melanin, leads to development of solar keratoses and squamous cell carcinomas, and basal cell carcinomas.

Albinism means one of a group of disorders of melanin biosynthesis, characterised by a generalised reduction in pigmentation of hair, skin and eyes, misrouting of optic nerve fibres and other ocular abnormalities. This definition includes oculocutaneous albinism and ocular albinism.

Is specific diagnostic evidence required to apply the SOP? – Yes.

This diagnosis requires an opinion from a specialist general physician or ophthalmologist, and perhaps genetic testing to confirm the genetic defect.

Are there sub-factors that require specific information? – No.

The only relevant factor is inability to obtain appropriate clinical management.  See notes below.

Additional diagnoses covered by SOP
  • Nil
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then seek medical officer advice about further investigation.

Notes - appropriate clinical management

Appropriate clinical management for albinism would include skin ultraviolet light protection, skin and eye specialist attendance.