![]() Also, the patient’s hair may be light yellow, blond or light brown. Type 2 is often less severe, and the individual’s skin usually is a creamy white color.Type 1 is characterized by white hair, very pale skin and lightly colored irides.There are four types of oculocutaneous albinism: How do you explain her SD-OCT findings (OD top, OS bottom)? Often, these individuals present with an obvious lack of skin pigmentation, their hair has a bleached white appearance, and their irides are light blue or almost white in appearance.Ģ, 3. 1 Although the condition may be isolated to the eye (ocular albinism), most cases also involve the skin and hair––as was the case in our patient. All these findings are consistent with oculocutaneous albinism.Īlbinism represents a hereditary group of disorders characterized by a congenital lack of melanin pigment. On slit-lamp evaluation, she had iris transillumination defects, and on dilated fundus exam we noted a striking lack of pigmentation within the retinal pigment epithelium. And, given her history of poor vision and nystagmus, it was readily apparent that the albinism also had affected her eyes. Does our patient meet the usual legal requirements for obtaining a driver’s license?įrom external appearance alone, it was obvious that our patient had cutaneous albinism. How would you characterize the SD-OCT finding in our patient?ĥ. Based on the data provided, what changes would you expect to see in the anterior segment?Ģ. We also obtained a spectral-domain optical coherence tomography (SD-OCT) scan ( figures 2 and 3).ġ. Her pupils were equally round and reactive, with no evidence of afferent defect OU.ĭilated fundus exam revealed pronounced changes ( figure 1). She did not display a head turn, nor did she have a noticeable null point. Extraocular motility testing revealed horizontal nystagmus in all positions of gaze. Her visual acuity measured 20/80 OU with a spectacle correction of -14.50 + 2.75D X 110 OD and -13.50 +1.50D X 080 OS. Her medical history was significant for relatively light skin pigmentation, compared to her immediate family members. Our patient’s fundus evaluation reveals significant changes in both eyes (OD left, OS right). The patient also said that she wore glasses for as long as she could remember, and had undergone multiple eye examinations since early childhood.ġ. She reported being very nearsighted, and that she had poor vision her entire life. A 22-year-old black female presented for an eye exam to determine if she met the visual requirements for obtaining a driver’s license in the state of Florida. ![]()
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