Unseen Impairment: Pediatric Primary Care Management of Oculocutaneous Albinism 2

Brittany Kronick, MSN, CPNP-PC; Rita Marie John, EdD, CPNP

Disclosures

Journal for Nurse Practitioners. 2016;12(8):516-522. 

In This Article

Abstract and Introduction

Abstract

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.

Introduction

The diagnosis of albinism can be confusing for parents, and adjusting to life with the condition can be difficult for affected children. Speaking about the experience of raising her daughter with albinism, 1 mother said, "We thought she was a super alert baby, but around eight weeks we realized she actually wasn't tracking at all, her eyes were just moving back and forth. Suddenly everything changed. We didn't know what she needed and no one told us what to expect. It would have been nice to know sooner what resources were available to us." Oculocutaneous albinism type 2 (OCA2) is a complex subtype of albinism associated with a wide range of visual impairments without the traditional physical stigmata of disease. Children with the condition may face different obstacles than those typically discussed with relation to albinism. This article will discuss the pathophysiology, epidemiology, clinical presentation, and differential diagnosis. The unique developmental and psychosocial effects of having the OCA2 mutation are less frequently explored in the current literature and are highlighted in the article.

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