Kellogg Leads International Team Linking Family’s Symptoms to Rare, Inherited Syndrome Stan Gibson has struggled his whole life with an unusual collection of symptoms — symptoms that plagued his father and grandfather before him. All developed glaucoma as young children, and all battled similar rheumatologic, dermatologic and musculoskeletal problems. The condition seemed to be passed down only to males, and symptoms seemed to present in early childhood. Based on that pattern, Stan Gibson and his wife Eryn initially thought their daughter was not at risk, and that the disorder had bypassed their sons, who reached adolescence without developing symptoms. The first indication that that was not the case came when, at age three, their daughter Rachel was diagnosed with glaucoma. At the time, the family lived in California, where Rachel underwent multiple corrective procedures. Rachel’s eye problems per-
“
sisted after the family relocated
Left to right — Samuel, Stan, Rachel, Rulon, Eryn, Ammon, Adam, Lauren, Spencer. Photo courtesy of the Gibson family.
one eye slipped into the sclera,
DEVELOP EFFECTIVE TREATMENTS.
National Institutes of Health (NIH), where Dr. Prasov completed a clinical fellowship, all of the protein-coding DNA from affected and unaffected
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— Lev Prasov, M.D., Ph.D.
Brenda Bohnsack, M.D., Ph.D., performed a complex reconstructive procedure that saved her vision. Dr. Bohnsack is now head of ophthalmology at the Lurie Children’s Hospital of Chicago. Impressed by the level of care his daughter received, Stan
members of the extended Gibson family was sequenced. This whole exome sequencing revealed a never-before observed misspelling in the gene
DDX58. Stan, Rachel and Adam all share this
mutation.
A search of a public database of reported patient informa-
Gibson soon began seeing Kellogg glaucoma surgeon Sayoko
tion linked to genetic variants led to the identification of another
Moroi, M.D., Ph.D., and cornea and refractive surgeon Shahzad
family in Belém, Brazil, with a similar set of clinical findings
Mian, M.D., to manage his ongoing eye problems. After el-
and the same DDX58 variant.
evated eye pressure caused an initial cornea transplant to fail, Gibson underwent a second transplant procedure at Kellogg. The mysterious condition struck the family again when, at age 13, their son Adam experienced sudden and dramatic vision loss. Dr. Bohnsack performed an emergency procedure
“We concluded that the disease is Singleton-Merten syndrome type II,” says Dr. Prasov, “an extremely rare, autosomaldominant condition with only three previously documented families.” Further genetic, clinical and epidemiological research
to normalize his eye pressure, restoring most of Adam’s vision,
followed to better understand the syndrome. An international
save a small peripheral loss.
team led by Dr. Prasov included specialists from Kellogg and six
At that point, ophthalmic geneticist Lev Prasov, M.D.,
12
In collaboration with colleagues at the National Eye Institute of the
US PREVENT SOME OF ITS MORE SEVERE CONSEQUENCES, AND EVENTUALLY
where pediatric glaucoma surgeon
shared by Stan, Rachel and Adam.
THAT DRIVE THIS SYNDROME MAY HELP
to Michigan. When the iris of she was referred to Kellogg,
of the seemingly random symptoms
UNDERSTANDING ALL THE FACTORS
other departments at U-M, academic medical centers in Boston,
Ph.D., along with Dr. Bohnsack and glaucoma geneticist
Chicago and Columbus in the U.S., Belém and Sao Paulo in
Julia Richards, Ph.D., began looking for the genetic origins
Brazil, and seven different units of the NIH.
