The purpose of this overview is to increase the awareness of clinicians regarding oculocutaneous albinism and ocular albinism, and their genetic causes, management, and genetic counseling.
The following are the goals of this overview.
Goal 1: Briefly describe the clinical characteristics of oculocutaneous albinism and ocular albinism.
Goal 2: Review the genetic causes of oculocutaneous albinism and ocular albinism.
Goal 3: Review the differential diagnosis of oculocutaneous albinism and ocular albinism with a focus on genetic conditions.
Goal 4: Provide an evaluation strategy to identify the genetic cause of oculocutaneous albinism or ocular albinism in a proband (when possible).
Goal 5: Inform genetic counseling of an individual with oculocutaneous albinism or ocular albinism and their family members.
Goal 6: Review management of oculocutaneous albinism and ocular albinism.
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