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Figure 2.77. This patient demonstrates heterochromia of the irides which is occasionally seen in tuberous sclerosis, an autosomal dominant (9q33-34; 16p13) disorder. Sector iris pigmentation is also seen in tuberous sclerosis due to abnormal neural crest migration of melanocytes into the iris stroma.

Figure 2.77. This patient demonstrates heterochromia of the irides which is occasionally seen in tuberous sclerosis, an autosomal dominant (9q33-34; 16p13) disorder. Sector iris pigmentation is also seen in tuberous sclerosis due to abnormal neural crest migration of melanocytes into the iris stroma.

Figure 2.78. Oculocutaneous albinism is complete albinism with a lack of pigmentation in the eye and skin and is inherited as an autosomal recessive (tyrosinase deficiency; 11q14-q21) disorder. The iris pigment epithelium contains no melanin, and the iris has no color. Thus, the iris has a pink color, and the hair is totally white. This form of albinism is distinct from ocular or incomplete albinism with a partial lack of pigment in the eye and skin which is inherited as an X-linked recessive (Xp22.3) disorder. The iris pigment epithelium contains less melanin, and the iris has a light color. Thus, the iris is usually blue, and the hair is blond.

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