Unseen Impairment: Pediatric Primary Care Management of Oculocutaneous Albinism 2

• Oculocutaneous albinism type 2 (OCA2) is a genetic condition characterized by ocular and dermatologic findings.
• Little attention is paid to the psychosocial stress that OCA2 can cause families.
• Nurse practitioners play a key role in the diagnosis, support, and management of children with OCA2.

Oculocutaneous albinism type 2 (OCA2), an autosomal recessive mutation of the OCA2 gene on chromosome 15, results in ocular and dermatologic manifestations. In primary care, nurse practitioners must detect the condition, refer to specialists, provide psychosocial support, refer to community resources, and coordinate care for children with this disorder. This article discusses the pathophysiology, epidemiology, and differential diagnosis of OCA2 as well as a discussion of the clinical implications and nurse practitioner management of the condition. The unique psychosocial effects of having the OCA2 mutation are less frequently explored in the current literature and are highlighted in this article.