Ocular albinism is an X-linked disease characterized in affected males by poor vision, nystagmus, iris transillumination, hypopigmented fundus, foveal hypoplasia, and a decreased proportion of ipsilateral ganglion cell fibers at the optic chiasm. Mutation of the OA1/GPR143 gene on the X chromosome is responsible for this condition. The skin and hair pigmentation appears clinically normal, but skin histologic analysis reveals macromelanosomes in melanocytes.1 Carriers of the condition are rarely symptomatic but often have signs of their carrier status. Female carriers have macromelanosomes in the skin, although they are fewer in number than in affected males. The eyes of carriers often show iris transillumination (80%) and a mud-splattered appearance of the posterior pole with typical pigmentary streaks in the peripheral fundus (92%).2 The pathogenesis of these streaks has not been understood.
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Figure 1. Fundus autofluorescence image of the posterior pole of the right eye of the X-linked ocular albinism obligate carrier, demonstrating the typical mud-splattered appearance of the retinal pigment epithelium. Hypoautofluorescent areas correspond to hyperpigmented areas of retinal pigment epithelium. Similarly, hyperautofluorescent areas correspond to hypopigmented areas on the color fundus photograph.
Figure 2. Color fundus photograph and late-phase fluorescein angiogram. A, Color fundus photograph on a wide-angle instrument of the right eye of the X-linked ocular albinism obligate carrier, demonstrating the typical mud-splattered appearance of the posterior pole and the characteristic alternating hyperpigmented and hypopigmented peripheral streaks at the level of the retinal pigment epithelium. B, Late-phase fluorescein angiogram of the same eye showing normal retinal vasculature, blocking in hyperpigmented areas, and window defects in hypopigmented areas. Hypofluorescent areas correspond to hyperpigmented areas of retinal pigment epithelium. Similarly, hyperfluorescent areas correspond to hypopigmented areas on the color fundus photograph.
Figure 3. Schematic model of clonal populations of retinal pigment epithelial precursor cells proliferating and migrating in the peripheral fundus to produce the typical pattern of alternating hyperpigmented and hypopigmented streaks at the level of the retinal pigment epithelium. Artist: David Rini, MFA, Department of Art as Applied to Medicine, The Johns Hopkins University School of Medicine, 2012.
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Radial Streaking in the Fundus of the Carrier State of X-Linked Albinism
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