Detecting Autism

from physical clues in the Retina.

Is there a likely physical marker for autism being researched right now?

Recent studies are being summarized and new large number studies are being done to see if the results from “small number” trial studies can be duplicated and information refined.

A year or two ago an optometrist wondered if examination of the retina might be a way to distinguish autistic individuals and to be non intrusive ( no biopsies, blood samples, hair, DNA etc taken) and used as a diagnostic tool to discover autism as early as in newborn babies.

Studies have been done (and more are coming) and the results seem to show a few interesting points. (so far!)

Subsequent studies seem to prove that when children diagnosed as autistic are examined, the vast majority of them have thicker retinas and thicker coverings where the optic nerve joins at the retina than “average” or “normal” individuals.

More studies are being done to see if there are other criteria that can be gleaned.

Studies done on “autistic like” mice which have been engineered to carry several genes associated with autism also seem to show this characteristic (thicker tissue at retina and the base of the optic nerve).


Many scientific reports in journals and the news, etc. are reporting this as “fact.”

It is exciting to think science may have found an autism “tell” but here is why I would urge readers to be cautious in jumping on the “hooray we can detect autism now” band wagon.

There are many genetic conditions which frequently include autism in their symptoms. Fragile X, Ehler Danlos, Williams Syndrome, and many other known genetic syndromes/conditions have specific genetics associated with them as well.

What science may be in the process of discovering is another as yet unknown genetic condition associated with autism. As with the associated conditions referred to above, not all autistic individuals may have the genes that are present in the condition that causes thickened retinal and optic nerve tissues.

(see the genes included and known to exist in the engineered “autistic” mice and compare to the genes in the DNA of individuals included in the studies who show thickened tissue, for example.)

This does not mean that ALL autistic individuals might be diagnosed by using the retina test, only those with the specific genes which might also include signs of autism as part of the characteristics of that specific genetic condition.

Much more research is needed to make sure that somebody does not decide that if the retinas of individuals do not reflect this particular feature of development, that individual must NOT BE autistic.

Arbitrary statements in diagnosing autism abounded and were mistakenly perpetuated for years, and still are in some places today.

Today’s understanding of autism is that it is usually genetic, and that autism is caused by uneven development of one’s neurology even before we are born.

So far there are over 100 specific genes associated strongly with autism.

I hope there is much more critical research done before somebody arbitrarily decides that this potential new physical “marker” applies to ALL autistic individuals.

Watching for more reports and studies results as science moves on.
Hoping for scientific methods to be formed to ask and answer this question.
“Does this new test apply to every single individual who might have autism”???
Developments will be reported here.

Still learning, looking, trying to understand my own autism as I age. Trying to report what I am learning so you can find it here, “all in one place” rather than have to search all over the internet for clues.
It is all pretty interesting, isn’t it?