
In females random X-inactivation and subsequent embryonic development cause a specific distribution of cell clones. This aspect can be seen in carrier women for different X-linked diseases. In such dermopathies the carrier women show striated skin affections following a system of lines, which has been described by A. Blaschko in 1901. An analogous pattern can be seen in the retina of carrier women for the X-linked ocular albinism. The fundus shows a partial involvement with a striated pattern diverging from the papilla. In X-linked cataracts carrier women have lens opacities with an irregularly radiated pattern as well as segmental cataracts. This finding is demonstrated in the isolated X-linked cataract, the X-linked chondrodysplasia punctata, and in Lowe's syndrome.
Heterozygote, Oculocerebrorenal Syndrome, Eye Diseases, Albinism, Genetic Linkage, Dosage Compensation, Genetic, Humans, Female, Cataract, Retina
Heterozygote, Oculocerebrorenal Syndrome, Eye Diseases, Albinism, Genetic Linkage, Dosage Compensation, Genetic, Humans, Female, Cataract, Retina
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