Snapshot A 5-year-old girl presents to her primary care physician's office for counseling. She was recently diagnosed with type 2 oculocutaneous albinism based on genetic studies and clinical exam. While her skin is not completely white, it is pink and her hair is light-colored. She is counseled about wearing sunscreen, sunglasses, and sun protective clothes whenever she could be exposed to the sun, due to the increased risk of skin cancer. Introduction Clinical definition hereditary defect in pigmentation two most common types of albinism affecting the skin (oculocutaneous albinism) type 1, known as tyrosinase-negative albinism caused by mutations in tyrosinase gene ↓ or complete inability to produce melanin type 2, known as tyrosinase-positive albinism the most common type in the world defect in tyrosinase transporter ↓ melanin in skin less severe than type 1 other variants include ocular albinism, which affects only the eyes Genetics inheritance pattern autosomal recessive mutations type 1 chromosome 11 gene encoding tyrosinase type 2 chromosome 15 OCA2 gene encodes small molecule transporters involved in transport of tyrosinase Associated conditions skin cancer ETIOLOGY Pathogenesis normal number of melanocytes ↓ production of melanin ↓ tyrosinase activity or defective tyrosine transport recall that melanin is formed from tyrosine Presentation Symptoms may have ocular symptoms, such as photophobia or blurry vision Physical exam type 1 (more severe) skin white hair without any pigment white or pink skin color blue eyes pink-red nevi solar keratosis ocular impaired visual acuity nystagmus strabismus type 2 (less severe) pink to cream skin color yellow/brown hair (not white hair) blue to yellow/brown irides pigmented nevi freckles Studies Labs genetic testing to confirm diagnosis Differential Vitiligo Treatment Conservative sunscreen, sunglasses, and avoid sun exposure indication for all patients in an attempt to prevent skin cancers or skin burns Operative vision correction surgery may be indicated in cases of severe nystagmus Complications Skin cancer Severe sunburns Prognosis Patients generally live normal lives but are at increased risk for skin cancer