Rabu, 24 November 2010

Syndrome Gives Blacks Blue Eyes

A recent commenter on this blog suggested that the blue-eyed Black boy, in an earlier post, may present Waardenburg Syndrome, a rare autosomal genetic disorder that has possible bright blue eyes as one of its qualifying criteria, along with possible deafness (common). Actually, the cause of the blue eyes is a form of albinism that may include patches of non-pigmented skin or forehead hair, regardless of ethnicity.

There are four types of Waardenburg Syndrome, with a mix of possible characteristics as the determinant. Medical challenges increase with type. The boy in the picture is displaying two major symptoms of type 1, as does the previous boy (perhaps) (here); bright blue eyes and dystopia canthorum, a condition where the inner corners of the eyes are set more widely apart, but with normally distanced eyes.

Waardenburg occurs once in every 42,000 births, and is a deficiency inherited from a single parent, who may or may not display similar characteristics. Regarding the eye, color abnormalities come in three forms; heterochromia (multiple colors), bilateral isohypochromia (pale blue eyes), or fundus (reflective) pigmentary alterations (spottiness).

So, besides naturally occurring genetic blue eyes in dark skinned people, as previously discussed, understanding Waardenburg's is another avenue of accurately recognizing phenotype (gene expression) in eye color.

James C. Collier

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