Usher’s Syndrome

Luke Redman
History of Usher’s
Syndrome
● First described in 1858 by Albrecht von Gräfe
○ Reported the case of a deaf patient with retinitis
pigmentosa, who had two brothers with the same
symptoms.
● Named after the Scottish ophthalmologist Charles
Usher, who examined the pathology and
transmission of this illness in 1914 on the basis of
69 cases.
Symptoms
Cause of Usher’s Syndrome

● Inherited as an autosomal recessive trait.

● Only those with two recessive genes can have the disease
● A mutation on
Identifying Usher’s
Syndrome
● Tests involving hearing, vision,
and balance are conducted on
people who are thought to
have the syndrome
● Genetic Testing is also
available
Treatments for
Usher’s Syndrome
● Since Usher syndrome results
from the loss of a gene, gene
therapy that adds the proper
protein back may alleviate it,
provided the added protein
becomes functional.
Citations

“Usher Syndrome.” National Institute of Deafness and Other Communication

Disorders, U.S. Department of Health and Human Services, 6 Mar. 2017,
www.nidcd.nih.gov/health/usher-syndrome#e.

“Usher Syndrome - Genetics Home Reference.” U.S. National Library of

Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/usher-
syndrome.