Human eye color geneetics

[wijsman at max1.u.washington.edu]

> Can anyone give me any clues about the following condition?  I'm 
> not able to find any information on it.
> 
> There is a 45 year old male on CompuServe who posted photographs 
> of his eyes showing a closeup of his eyes.  The iris appears to 
> be dark blue and there is a lighter color, greenish-yellow around 
> the pupil and radiating outward.  He claims that this lighter 
> coloration occurred rather suddenly and recently, when he was an 
> adult.
> 
> Is this condition also a form of mosaicism?  Are you aware of a 
> mechanism whereby eye color could change in this way?
> mechanism whereby eye color could change in this way?  I could 
> even send you the photos (GIF) if you'd like.

He might want to see a doctor & get checked for Wilson's disease. I am no
physician & wouldn't presume to attempt a diagnosis. I am working from memory
here.  But at least verbally, the description could match one of the first
symptoms of Wilson's disease, which is an extraordinarily rare (I think about
1/100,000 people), autosomal recessive disorder of copper transport. One of the
first symptoms is generally distinctive rings in the eyes which appear
relatively suddenly & are a color one would expect for copper (yellow-green
sounds about right).  Onset is generally in adulthood, although I don't
remember at all what a typical age is.  Many physicians have never seen a case. 
The problem is that if the diagnosis is made too late, irreversible liver
damage may have occurred, whereas if it is made early enough, medical problems
can be minimized.

Ellen Wijsman
Research Associate Professor
Div of Medical Genetics, BOX 357720
and Dept of Biostatistics
University of Washington
Seattle, WA   98195
wijsman at u.washington.edu