Thursday, March 01, 2007

Gifted, Blind and Hairy

I just found a reference I've been looking for, and to make sure I don't loose it I'm posting it here.
The condition I was looking for is called Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis. According to that link, it's characterized by severe retinal dystrophy from birth, profound photophobia, trichomegaly, bushy eyebrows, synophrys and increased facial and body hair. In other words, they're almost totally blind, don't like bright light, and are hairy.
Although that link says they "were not mentally retarded", the journal article describing those two actually gave some information about what they were like mentally. They both had above average school performance. The elder one, an 18 year old, was musically gifted, her younger cousin was shy and introverted. That's only a bare minimum of information but it certainly suggests that they were gifted.
The link above appears to have reached the conclusion that their giftedness was unrelated to their syndrome, but it's really too early to tell. If they were mentally retarded, the assumption would be that it was related to their blindness and increased hair. Giftedness has the same frequency as mental retardation. It's probably just as genetic. And more and more, it's being shown that some conditions cause both disabilities and talents, such as Williams Syndrome. But still, they dismiss the possibility of a relationship when both of the only described cases of this condition were gifted.
We really need more case reports, that mention whether the affected individuals are gifted, to know for certain if it's associated. Knowing how intelligent their siblings are would help, because if these two had equally smart siblings then chances are it was inherited separately. I'm worried that if someone does find some people who are similarly affected, they will say only that they had no developmental delay, because they don't know that giftedness might be associated with this condition.

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