Sensory effects of Gorlin Syndrome

See the US group's newsletter "Quarterly Advocate":

http://www.bccns.org/news/2006Fall.pdf

"Update on St. Louis BCCNS Symposium Written by: Dr. Maulik Shah

On May 2nd and 3rd of 2005, the BCCNS Life Support Network in conjunction with the Departments of Dermatology and Pediatrics at Saint Louis University held a very unique conference in St. Louis, MO. This conference was one of the first of its kind where the participants were medical professionals, research scientists and persons with BCNS as well as their family members. This colloquium was an incredible success. As part of this conference, persons with BCNS were asked to fill out a number of surveys to document their medical history and information. In addition, BCNS members underwent clinical evaluations including eye exams, orthopedic exams, hearing exams and skin exams. For many people, we also managed to collect tissue samples, serum and DNA for research purposes. As you can see, the scope of this conference was quite far-reaching but everything went well thanks to the participants and the many people who helped organize the meeting. ..."


A few of their findings relevant to function of the nervous system and senses:


"36% of BCNS persons had strabismus, an eye condition where one or both eyes do not align properly. ...

Chalazion, an abnormal nodule of the eyelid, often associated with the glands of the eye, was found in 29% ...

Nystagmus ...in 12% of BCNS persons. Nystagmus is an involuntary movement of the eye or when an eye twitches without a purpose.

5% of BCNS persons had a coloboma or a gap in the nerve going to the eye. ...

A large number of BCNS persons (approximately 36%) had some degree of hearing loss. If hearing loss was present, it was more likely to affect both ears rather than just a single ear. ...

22%, had mild hearing loss. About 12% had moderate hearing loss; 5% had hearing loss that would be qualified as profound. ...

Overall, BCNS does play an important role in quality of life. We are currently trying to further analyze this data to understand what aspects of the medical condition or treatment have the greatest effect on quality of life. In addition to the SkinDex, we analyzed the CES-D information. The CES-D is a depression scale used to identify persons that may be at risk for developing clinical depression. Interestingly, about 50% or half of those filling out the survey would be categorized at risk for clinical depression and in need of further assessment. ..."


See the article; it is quite readable.  I found it encouraging to read about what a group of GS people can achieve in furthering knowledge about the syndrome, with the help of interested experts.


My personal observations:

I have suffered from clinical depression.  The antidepressant “mirtazapine” has helped me greatly.

My hearing is considered normal in tests, but I have long experienced trouble when trying to converse where there is a lot of background noise.

High glare overloads my eyes and brain badly.... really, a lot of any kind of stimulation is unpleasant to me!  (I am blue eyed and introverted, so these observations might have little to do with GS.)

My physical coordination is imperfect; if I try to run, I soon trip.  A few years ago, a neurologist told me that my right leg is "partially denervated".  The right foot often twitches, and there is decreased sensation; I can develop blisters without feeling the injury.  When I am unwell, my gait can become unsteady, and my right leg is more wobbly than the left; giving less support as I walk.  (Use of Aldara on my BCCs has this effect on me, sometimes.)

My hand : eye coordination is not good "at speed"; even when young, I could not SEE a moving squash ball, much less hit it!  When I was young, I could see larger balls, eg tennis balls and hockey balls at school, but the last time I attempted to play tennis (age about 45), I was completely unable to tell where the ball was, once it began to move and was airborne.

I was very interested to read about the vision defects which they found in participants with GS, because my eyes flick a lot; this has become more of a problem as I aged and when I have been more stressed.  They also like to diverge; my eyes can jump around between 14 to 18 units of divergence when they are unfocussed.  My optometrist tells me that normal eyes range from 0 (both eyes aiming in the same direction, when completely relaxed) to 2 (the eyes aiming slightly outwards, when completely relaxed).  One optometrist told me, several years ago, that my eyes actually take it in turns throughout the day to "run" my vision, for walking around etc.  If I exert some concious effort, I can make them aim at the same target for normal binocular vision to do fine work, but if I am tired / stressed/ unwell, those times are brief; soon, one eye soon wanders off.  If I look in a mirror, and relax, I can use one eye to see the other one flick away and aim outwards; alternating as I choose.

Have you had regular eye checks, including measuring divergence?  I had a severe problem when severely - stressed several years ago (age around 30).  I suffered severe chronic eye pain, due (the optometrist told me then) to the eye muscles being overworked, as they tried to tug my eyes together numerous times each day, forcing them to act as a team, to do a certain task in that job, while they soon diverged again, requiring another effort to make them operate as a team.  I was prescribed eye exercises as are generally used for small children, which helped me a bit.  Changing jobs was a more potent fix, for me.

These days, I let my eyes "do their own thing" most of the time; most of the time, I am using vision out of one eye at a time ("alternating monocular vision").  Sometimes, I notice the eyes change over as I am walking or doing other simple tasks.  Mostly, I have my attention on other things, so I do not pay the changeover much attention.  For many tasks in the lab now, I consciously use input from one eye only; I look over my specs for very fine work, and let the eyes diverge, and just use monocular vision, then force binocular vision for a moment, and back to monocular.  This strategy helps me detect tiny details that are important in my work.  Age 56, I have very little accommodation in my lenses now, but as I am very myopic, I can still see very small things with unaided vision, if they are close enough.  I have read online, where other folk with alternating monocular vision have posted on internet forums, that they feel their eyes regularly swap tasks as they read; eg one eye reads the left side of the page of text, and the other eye takes over to read the right side of the page.

How is your eyesight and hearing?  Like me, were you unaware that some of those oddities can be part of GS?

As for other sensory losses, how is your sense of smell?  When Dr Georgia Trench confirmed to me that I have GS, she specially asked about smell, and about no other senses.  I was astonished that this oddity was also part of GS!  Before that day, I had often noticed there was something odd about my sense of smell.  It is not complete anosmia (lack of a sense of smell) but I often have great difficulty in detecting odours that seemed powerful to other people.  Georgia told me it is transient; that my sense of smell will come and go.  And I found that is true!  Working in a clinical microbiology laboratory, we use our sense of smell to help us work out what a certain bacterial culture may be, and to detect certain organisms such as yeasts.  Some bacteria generate odoriferous molecules that are offensive or “eye watering”, yet on some days, I am almost "blind" to those really pungent pongs... while I can smell all sorts of subtle odours, on another occasion.  Occasionally, I wonder how transient partial anosmia can occur; what physiological changes underly these transient changes.

Have you noticed similar sensory impairment?