Lehigh County Health & Medicine Fall 2019 - 30

FEATURE

Usher
Usher
Syndrome
Syndrome
BY ELISA GIUSTO, D.O.
Family Medicine PGY-2
PAMPAC Resident Representative

n honor of September 21st being Usher Syndrome Awareness
Day, here is a review of this rare disease.

Usher syndrome is caused by mutations in specific genes that
provide instructions for making proteins involved in normal
hearing, vision, and balance. Usher syndrome was first described
in 1858 by Dr. Albrecht Von Graefe, but was named for Dr.
Charles Usher, a Scottish ophthalmologist who identified the
disorder's recessive inheritance pattern. Usher syndrome affects
approximately three to ten in 100,000 people worldwide. Higher
than average numbers of people with Usher syndrome have been
found among Jewish people in Israel, Berlin, Germany; French
Canadians of Louisiana; Argentineans of Spanish descent; and
Nigerian Africans. People with Usher Syndrome have congenital
or early-onset hearing impairment followed by the development
of loss of vision caused by retinitis pigmentosa. Vision loss occurs
as the light-sensing cells of the retina gradually deteriorate. Night
vision loss begins first, followed by blind spots that develop in
the peripheral vision. Over time, these blind spots enlarge and
merge to produce tunnel vision.
If a child has congenital hearing loss secondary to rubella
infection and concurrent rubella retinopathy, the child may be
mistakenly diagnosed with Usher syndrome. Electroretinography
may facilitate the correct diagnosis, as the electroretinogram is
only mildly abnormal in rubella but severely abnormal in Usher
syndrome. Researchers have identified three major types of
30 Lehigh County Health & Medicine | FALL 2019

Usher syndrome, designated as types I, II, and III. These types
are distinguished by the severity of hearing loss, the presence
or absence of balance problems, and the age at which signs and
symptoms appear. The treatment of Usher syndrome is directed
toward the specific symptoms that are apparent in each individual.
Individuals with retinitis pigmentosa in association with Usher
syndrome may find low-vision aids to be helpful. Sensorineural
deafness should be assessed and communication options explored
as early as possible to provide the child with a solid language
base. Hearing aids or cochlear implants will benefit most infants
and children with Usher syndrome. American Sign Language
may be explored as a communication option. Some experts
recommend that adult patients with common forms of retinitis
pigmentosa take 15,000 IU daily of vitamin A palmitate under
their ophthalmologists' care, follow a regular balanced diet, and
avoid high-dose vitamin E supplementation. Although there is
not cure for Usher Syndrome, children diagnosed with Usher
Syndrome can live full and happy lives and I hope this shed some
awareness about the disease.

Sources
https://www.uptodate.com/contents/retinitis-pigmentosa-clinical-presentation-and-diagnosis?search=usher%20
syndrome&source=search_result&selectedTitle=1~15&usage_type=default&display_rank=1
https://rarediseases.org/rare-diseases/usher-syndrome/
https://ghr.nlm.nih.gov/condition/usher-syndrome#

https://www.uptodate.com/contents/retinitis-pigmento https://www.rarediseases.org/rare-diseases/usher-syndrome/ https://ghr.nlm.nih.gov/condition/usher-syndrome#

Lehigh County Health & Medicine Fall 2019

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