TSBVI Outreach Presents
TETN # 25,259
Usher Syndrome:
Educational and Support Considerations
Presented by Peggy Miller
Texas School for the Dear
peggy.miller@tsd.state.tx.us
This handout will also be used for
TETN # 30,238
Usher Syndrome: An Overview
Usher Syndrome (US)
Why do you need to know about US?
Peggy Miller
TETN January 30, 2008
Why am I talking to you? Why are you listening?
Did you know…..?
What is Usher Syndrome?
Types and incidence of Usher Syndrome
Identifying students with Usher Syndrome
Usher Syndrome in the school setting: special considerations
Research update and Resources
Discussion: What can you do to identify and support students in
your programs who may have Usher Syndrome?
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
1
Usher Syndrome: A Brief Summary
 Born deaf or hard of hearing with a progressive loss of vision
due to Retinitis Pigmentosa (RP)
 An autosomal recessive gene: both parents pass the gene in
order for the condition to occur
 When both parents have the gene there is a one in four
chance that each of their children will have Usher
 3-6% of the congenitally deaf or hard of hearing have Usher
 Usher accounts for 50% of all cases of deafblindness; the
leading cause of combined vision and hearing loss in the
United States
 Type 1 - 90% of all Usher (most common); deafness with RP
symptoms before adolescence
 Type 2 - 10% of all Usher; moderate to severe hearing loss
with RP symptoms after adolescence
 Type 3 – seems to account for about 40% of Usher in eastern
Finland; similar to Type 2 with rapid and progressive loss of
hearing
 Characteristics may include:
o Night blindness
o Glare sensitivity
o Need for high contrast
o Restricted visual fields
o Problems with acuity
o Balance problems (for some types of Usher)
o Difficulty receiving sign, fingerspelling, & other visual
information from different angles
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
2
o
 Why early identification is important:
o Safety issues
o Social-emotional & mental health issues
o Educational and vocational issues
o Genetic counseling for student and family members
Jenny Lace, DB Outreach/ rev.Peggy Miller, TSD 2006
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
3
Types of Usher Syndrome
Symptom
Hearing
Loss
Type 1
Born deaf with profound
hearing loss and have a
“corner audiogram”
with responses only to
very loud low tones.
Type 2
Type 3
Born hard of hearing with Onset of hearing loss
a sloping
0-40 yrs. Progresses
sensori-neural loss
rapidly (often over 1015 yrs.) to profound
from mild loss in the low deafness. Ski-slope
frequencies to
audiogram with speed
severe/profound loss in
bump.
high frequencies.
Balance
Absent inner ear
balance
Normal inner ear balance
Vision Loss
Night blindness in
infancy or early
childhood. Blind spots
by late childhood or
teens. Legally blind by
early adulthood.
Night blindness in
Similar to Type 2.
childhood or teens. Blind
spots by late teens or
early adulthood. Legally
blind by early to mid
adulthood.
From RP
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
Probably progressive
balance problems
4
Symptom
Gene
Location
Type 1
Type 2
1A: Long arm of 14
1B: Long arm of 11
2a: Long arm of 1
(most common)
2c: Long arm of 5
Type 3
3: Long arm of 3
2b: Short arm of 3
1C: Short arm of 11
mostly of Acadian
descent from
Louisiana
1D: Long arm of 10
1E: Long arm of 21
1F: Long arm of 10
1G: Long Arm of 17
Updated 2-21-2005
Source: Sandra Davenport, M.D.
Sensory Genetics / Neuro-development
5801 Southwood Drive
Bloomington, MN 55437-1739
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
5
Vision Screening: Staff/Parent/ Student Questionnaire
To:
From:
Re:
Date:
This student has been referred to me for possible vision
problems. Your input helps us get more accurate information.
You are an important part of our team! Please answer these
questions as best as possible; return this form to
___________________________ by ______________.
Night Blindness:
_____
_____
_____
_____
_____
can't see when coming in from bright sunlight
trips over things when light changes or light is dim
stays near a light in a dark room or at night
moves a speaker so light falls on face
may express a desire to enter a room before it is darkened
(movie theater, etc.)
_____ when walking along a road at night, may appear to stagger
or lose balance after an oncoming car has passed
_____ has problems reading under some lights or in dimly lit
areas
Glare sensitivity:
_____ squints and shades eyes in bright lights or florescent
lighting - complains that light hurts his/her eyes
_____ likes to wear sunglasses even in buildings, but especially in
bright sunlight
_____ avoids participating in outdoor sports when the sun is very
bright
_____ may appear awkward when exiting from the inside to the
outside of a building (when faced with bright sunlight)
Needs contrast:
_____ has difficulty reading light copies or ditto copies
_____ often spills when pouring liquids
_____ can't see stars at night
Restricted field:
_____ startles easily
_____ seems to hold eyes in a different direction when looking at
some things
_____ turns head while reading across a page
_____ uses finger to mark place while reading
_____ can't find small objects that have been dropped
_____ fails to glance at another person's hand waving from the
side
_____ bumps into people, tables, and chairs
_____ stumbles on stairs and curbs
_____ is quiet in a large group or may edge him/herself to one
side when placed in a group
_____ frequently fails to understand or misses groups instruction.
Often relies heavily on friends for information
_____ may appear to ignore other standing by his/her side
_____when engaged in sports/play activities, seems to limit his
movement to directly in front of him (ex., dribbles ball
forward but not to the side)
Problems with visual acuity:
_____ holds book close to eyes or bends to read
_____ places face close to desk while writing
_____ sits near blackboard
Balance problems:
_____
_____
_____
_____
late learning to walk (past 15 months)
can't ride a bicycle
is considered clumsy
loses balance easily in the dark
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
1
Other:
_____
_____
_____
_____
_____
_____
_____
_____
frequently last in completing group activities
exhibits symptoms of anxiousness in new areas
often last to enter the room
may have some repetitive behavior (seems to do the same
things in the same ways, or continues to order the same
things)
may choose to stay home alone rather than be faced with
the embarrassment of dealing with a new situation in the
dark
may appear unconcerned and may fail to fully participate in
group activities
frequently hesitates at the top or bottom of stairs (for
orientation)
avoids walking or running in unfamiliar areas, especially
when there is bright sunlight
Using vision for receiving sign language and/or
fingerspelling: check all that apply
_____ difficulty copying handshapes or signs
_____ alters his posture to see signs or fingerspelling
_____ seems to "back up" to see others signing to him or to view
pictures or photos
_____ difficulty receiving visual information presented at different
angles (i.e, to the right side or left side);
please describe: _________________________________
_____ has difficulty with seeing signs at typical conversation
distance of 2 -3 feet.
_____ prefers signed conversation at distances of 3-6 feet
_____ other:
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
2
Please describe any behaviors you feel are important for us
to know:
If you are the referral source for this student, please
answer the following:
1. What are your main reasons for making this referral?
2. What questions do you want answered regarding this
student's vision?
3. Is there anything specific you want shared with the eye
doctor about this child?
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
3
Student Vision Questionnaire
(Confidential)
Student:
Interviewer:
Date of Birth:
___
_____ Grade/Dept: ____Date: ___
Note to the Interviewer: Please take a minute to complete this
questionnaire with your student and/or student and the interpreter. This is
to be completed for students age 8 or beginning in the third grade through
high school.
Ask the Student:
1.
When you walk inside a dark movie theater or room, how long
does it take you to adjust (e.g., a couple of seconds, one
minute, or longer)?
2.
When you come inside from a bright, sunny day, is it hard to
see things and people?
3.
Do you trip over things?
4.
Does sunlight hurt eyes?
5.
Do you often spill liquids when pouring them into a cup or
glass?
6.
Do you have difficulty with stairs? Steps on a bus? Steps on
an escalator?
7.
If someone waves to you from the side, do you see them
when you are not looking at them?
8.
Is it hard to find small objects when you drop them on the
floor?
9.
Do you bump into people, chairs, or things?
10. Do you have trouble riding a bicycle?
11. Do you sometimes knock over a glass of water or other
objects on the table at mealtimes?
Source:North Dakota School for the Deaf (1996) as included in the Kansas School for the Deaf Screening
Manual, 1997 with some revision by Peggy Miller, Texas School for the Deaf, 1999
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
4
Identifying Students with Usher Syndrome:
What to ask for and what does it mean?
The following is based on knowledge obtained from a variety of
eye specialists and geneticists who diagnose Usher Syndrome and
my experiences facilitating such exams for these students. RP
refers to the specific eye condition associated with Usher
Syndrome, Retinitis Pigmentosa (Peggy Miller, 2006).
The standard or minimum to be done
Ophthalmological exam - a dilated retina exam specifically to
check for
 fundus pigmentation changes (“salt & pepper” fundus): the
retinal
pigment epithelium (RPE) may have a mottled gray
appearance. RPE is the pigment cell layer outside the retina
that nourishes the retina.
 spicules (bony spicules) – linear clumps of pigment in the back of
the eye. This starts to appear peripherally in the retina in RP.
Normal pigment spreads out but in RP, pigment clumps because
the retina tissue is dying; it looks like “crow’s feet” or little
jagged spots. Dr. Davenport says that this dark streaking is
usually seen about half-way through the disease.
 cataracts – people with RP have a high incidence of
developing cataracts
 macular edema or swelling in the macular area (central area
of the retina)
 narrowed or “attenuated” blood vessels
 pale or waxy yellow appearance of the optic nerve
ERG – Electroretinogram
This test will show if the retina in the eye is working properly.
After sitting in a dark room until the eyes adjust to the
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
5
darkness, one eye will be patched and the other eye will be
fitted with a contact lens. The machine will take pictures of the
eyes responding to flashing lights. (Sr. Bernie). An ERG
measures the electrical response of the retina to flashes of light;
it consists of several wave forms, which show rod and cone
activity.
ERG testing is usually done at major research facilities. In
Houston, call the Hermann Eye Center, (713) 704-1777; in
Dallas, University of Texas Southwestern Medical Center,
(214) 645-2020) and in San Antonio, University of Texas
Health Science Center, (210) 567-5088.
Goldman Visual Field Test
This is the recommended visual field test for RP. The test
machine is called the Goldman Perimeter; it takes about 1520 minutes to test each eye. It will indicate the field of vision
(normal fields = approximately 180 degrees) (Sr. Bernie).
Other testing sometimes recommended
Genetic testing/counseling
Contact a geneticist and/or Boys Town Research Hospital for
testing.
Visually Evoked Response (VER)
Like the ERG, it measures electrical potential resulting from a
visual stimulus. It is measured by scalp electrodes placed
over the occipital cortex; it is used for detecting defects in the
retina-to-brain nerve pathway.
Fundus photos
Fundus photos are actual photo and slide pictures of the back
of the eye.
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
6
Fluorescein Angiography (FA)
Fluorescein dye is injected into an arm vein and photographs
are taken of the eye to evaluate blood vessels in the retina and
choroid.
Dark Adaptation
This test indicates how well a person can see in the dark and
how long it takes to adjust to the dark; the test takes about
30 minutes. Dr. Laura Miller says this is usually done only in
research labs.
Electro-oculogram (EOG)
The electro-oculogram measures electrical impulses from the
back of the eye to the front and takes 45 minutes to complete
(Sr. Bernie). “Abnormalities of the EOG principally occur in
diseases diffusely affecting the retinal pigment epithelium and
the photoreceptors.” (Vaughan,D.) Dr. Miller comments this
is usually done in more later stages of the disease as it
assesses more of the macular functioning.
Sources:
Sandra Davenport, M.D., Sensory Genetics/Neurodevelopment,
MN
Laura Miller, O.D., Low Vision Specialist, Austin, TX.
Daniel Vaughan, et.al, General Ophthalmolog, 1995.
Sister Bernadette Wynne (Sr. Bernie), Helen Keller National
Center, N.Y.
Various retina specialists and pediatric ophthalmologists in Austin,
TX.
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
7
What to do after the diagnosis of
Usher Syndrome?
Suggested Follow-up for Students with
Usher Syndrome and Their Families
USSC
 With family permission, the Certified Teacher of the Visually
Impaired (CTVI) shares results of evaluations with appropriate
staff with sensitivity and confidentiality; remember, the decision
to tell the student is the family's right
 CTVI provides resources on US to students (at age-appropriate
level), family, educators, nurses, counselors and residential
staff
 CTVI notifies each student's primary counselor of new diagnosis
 CTVI provides training for counselors, psychologists, residential
staff, instructional staff, sign language interpreters, AI teachers,
speech pathologists, etc.
 CTVI follows up with appropriate evaluations (FVE/LMA) and
ARD process to qualify students as Visually Impaired (VI) or
Deafblind (DB); and recommend appropriate modifications and
services
 CTVI follows up with appropriate referrals (LVE, O&M, etc.) and
continues to monitor and provide assistance for ongoing
ophthalmologicals
 CTVI provides consultative or direct services to students
 CTVI connects the family to DARS-Division for Blind for
assistance, including asking about possible support group
meetings in the area
 CTVI works with the Texas Deafblind Outreach Project and
Regional Deafblind Specialists to provide support to families,
identify technical assistance and training needs for the student,
family or educators
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
8
Most important of all for
professionals and families:
Create opportunities for
students with Ushers to
connect with one another.
And
Become involved in the
community and culture of
people with deafblindness.
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
9
DO’s AND DON’Ts
For Working With Deaf People
Who Have Retinitis Pigmentosa (RP)
PLEASE DON’T: 
1.
Don’t stand too close to the person when fingerspelling,
signing and speaking.
2.
Don’t wave at the person from the sides when you are trying
to get his or her attention.
3.
Don’t point at another person who may want the attention of
the person with RP.
4.
Don’t grab the person’s arm when he needs guidance in the
dark.
5.
Don’t converse with the light coming directly behind you
(sunlight, brightness at the window, bright doorway, or bright
lamp, etc.)
6.
Don’t use large, wide-movements while using sign language,
confine signs to a compact area.
7.
Don’t attempt to carry on a conversation in a poorly-lighted,
dim room.
8.
Don’t point vaguely in the general direction of something you
may be talking about.
9.
Don’t assume that the person with RP sees the low furniture
or other low obstacles.
10. Don’t be afraid to ask if he or she needs help.
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
10
PLEASE DO: 
1.
Do stand at a reasonable distance (between 4 and 5 feet
away) when fingerspelling, signing and speaking.
2.
Either walk up to the person with RP or ask the person
nearest him to call his attention.
3.
Do say the name of the person who wants his or her attention
and try to let him or her know where that person is.
4.
Do offer your arm for guidance in the dark. Hint to offer help.
(e.g., “Need help?” “O.K?”)
5.
Do keep the direction of the light at the side or behind the
person with RP.
6.
Confine your fingerspelling and signs, preferably to chest
level.
7.
Do carry on the conversation in a well-lighted area, if
possible.
8.
Do point out and specify where and to what you are referring.
9.
Be ready to warn the person of the low furniture or any low
obstacle and unexpected steps.
10. Feel free to ask if he or she needs help.
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
11
Suggestions for Home/Dorm
for Students with Usher Syndrome
1.
Flashlights should be provided for night travel; "Sighted Guide"
method may be appropriate if the activity is in an unfamiliar area.
2.
Specially lighted conversational areas should be provided during
parties, dances, and other activities.
3.
Arrangements should be made so that students may arrive early to a
movie to allow the students to be seated before the lights go out.
4.
At movies, students should be allowed to remain in their seats a few
minutes after the movie is over.
5.
Students should be permitted to choose the best location to sit or
stand for any activity.
6.
Sunglasses should be provided for outside activities during the day,
particularly if there is bright sunlight.
7.
If possible, students should be provided with a position during outdoor
activities and games that allow their backs to be to the sun.
8.
Students should be alerted to any change in the level of a surface
when walking, particularly when facing the sun.
9.
Skilled and understanding counselors should be available at all times;
and objective answers should be given to the students who have
questions about Usher Syndrome.
10. Residential advisors should be aware that small group activities are
preferable to large group activities.
If a large group activity is
necessary, it is important to provide an interpreter or mini-groups
within the larger group.
Revised from Hicks, W. & Hicks, D.: The Usher Syndrome Adolescent:
Programming Implications for School Administrators, Teachers and
Residential Advisors, American Annals of the Deaf, 1981, 422-431.
Peggy Miller, TSD 1998/2006
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
12
USHER SYNDROME: LINKS TO RESOURCES
American Association of the Deaf-blind www.aadb.org
Boys Town National Research Hospital: National Center for the
Study and Treatment of Usher Syndrome (important site to follow
for new info) www.boystownhospital.org main # 402/4998.6511
Dr. Kimberling’s assistant 402/498.6344
The Deafblindness Resources Page (extensive listing of links to other
resources) www.deafblind.com/deafblnd.html
DB-Link: The National Consortium on Deaf-Blindness (invaluable
site) www.tr.wou.edu/dblink/
The Deaf-Blind Multihandicapped Association of Texas (DBMAT)
(family focused) http://www.dbmat.org/
Dept. of Assistive & Rehabilitative Services (DARS), Division for
Blind Services www.dars.state.tx.us/dbs
Foundation for Fighting Blindness (useful information, fact sheets
and articles) www.blindness.org or www.blindness.org/Usher/
The Helen Keller National Center for Deaf-Blind Youths and Adults
(HKNC) http://www.hknc.org/ (offers trainings for consumers and
professionals)
Lighthouse International www.lighthouse.org
RP International www.rpinternational.org
Texas Assocation of Retinitis Pigmentosa (RP)
http://www.geocities.com/hotsprings/7815/tarp7.htm
tarpmail@homebiz101.com
(361) 852-8518
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
13
Texas School for the Blind and Visually Impaired www.tsbvi.edu
Texas School for the Deaf www.tsd.state.tx.us
Books and Materials
ASL Websites
http://commtechlab.msu.edu/sites/aslweb/browser.htm
www.surfnetkids.com/signlanguage.htm
www.handspeak.com/
http://where.com/scott.net/asl/
(fingerspelling site)
Dictionary of Eye Terminology by Barbara Cassin & Sheila A.B.
Solomon (general reference)Triad Publishing Co. , 1110 NW 8th
Ave., Gainesville, Florida 32601. Also available through
www.lowvisionsimulators.com
A Guide to Usher Syndrome
www.blindness.org 1-800-683-5555
Usher Syndrome in the School Setting by Ilene Miner & Joe
Cioffi, HKNC Technical Assistance Center, Sands Point, NY 11050
PH: 516-944-8900 ext. 307 or dowload it from the web at
http://www.dblink.org/lib/topics/usher.htm
Screening for Usher Syndrome: a hands—a hands-on guide for
school nurses by Joan Houghton et al. (1998); contact the Kansas
State Dept. of Education, (785) 296-2191
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
14
Finding Wheels: A Curriculum for Nondrivers with Visual
Impairments for Gaining Control of Transportation Needs
by Anne L. Corn & L. Penny Rosenblum (2000);
www.proedinc.com, Order #8858
Streamlight Wide-Angle Re-Chargeable Flashlights
Big Country Supply, P.O. Box 6518, Abilene, Tx. 79608-6518, 1800-284-7936
Low Vision Simulators
www.lowvisionsimulators.com 608-233-3464
5141 Door Drive, Madison, WI 53705-4752
Research Articles
www.blindness.org/research
Links to most recent research updates and has a lot of useful
information
www.tsbvi.edu/Outreach/seehear Spring 2006. Research:
Looking for Treatments and Cures in Blindness by Kate Moss
`
TSBVI TETN #25259 Usher Syndrome: Educational and Support Considerations - Miller
15