Volume 14 Number 5 X-Linked ocular albinism; Nettleship-Falls ocular albinism Alexandria V Booth MD, Anthony C Soldano MD, Jonathan Levine MD, Miriam Pomeranz MD Dermatology Online Journal 14 (5): 4  Department of Dermatology, New York University

Abstract A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules. Macromelanosomes were demonstrated in normal skin on histopathologic examination. The patient's constellation of findings along with a strong X-linked inheritance pattern in family members led to the diagnosis of X-linked ocular albinism, which is an uncommon condition that is characterized by congenital nystagmus, iris translucency, hypopigmentation of the ocular fundus, strabismus, foveal hypoplasia, photophobia, and impaired vision. Clinical synopsis A 39-year-old man was referred to the Bellevue Hospital Center dermatology clinic by his ophthalmologist for a cutaneous examination. The patient originally presented for congenital nystagmus and lifelong reduced visual acuity. A maternal uncle and 2 of 4 brothers also have nystagmus with decreased visual acuity. Two sisters have unaffected vision; one sister has a son with vision problems similar to those of the patient. All family members live in the patient's native country of Mali. Physical examination Numerous, scattered, hypopigmented macules were distributed over the chest, back, buttocks, upper extremities, and lower extremities. Generalized scale was noted with polygonal scale over the lower extremities. Nystagmus with foveal hypoplasia was present; visual acuity was 20/100. Figure 1 Figure 2 Laboratory data None Histopathology

There is slight hyperpigmentation of the epidermal basal layer with an average normal number of melanocytes. Large melanosomes are present within the cytoplasm of both melanocytes and basal keratinocytes.