GEPY 6911: Functional Implications of

Visual ImpairmentSession 10: Wednesday, November 18, 2015:

Psychosocial Effects of Low VisionStudent Presentations

Presentations continue next week!◦ Those presenting should email Rhiannon with

your Power Point by Tuesday, November 24th, 2015

I will not have time on Wednesday to put the PowerPoint together before class!

Guest Speaker: Peter Parsons

Student Presentations:◦ Alstrom Syndrome – Laura Glass◦ Coloboma - Carla Giesbrecht◦ Peter’s Anomaly - Catherine Tellier

Housekeeping/Agenda

Guest Speaker: Peter Parsons

Peter on a recent visit to CNIB Halifax

Current: APSEA O&M Instructor

Past: CNIB O&M Instructor and Manager of Programs and Services

Has an 8 year-old son

Is a goalball superstar and part-time rapper

A very rare genetic disease with just over 1000 identified cases worldwide

By Laura Glass

Alstrom Syndrome

“Alstrom Syndrome is a rare complex genetic disorder associated with a wide variety of symptoms affecting multiple organ systems of the body.”, (NORD, 2013).

Carl-Henry Alstrom was born in 1907 in Swedenreceived doctorate in psychology in 1935 conducted genetic research in the 40’sIn 1959 he described 3 patients in his manuscript describing the symptoms of Alstom Syndrome

What is Alstrom Syndrome?

Is recessively inherited; therefore both of the parents are carriers but will not exhibit the features of Alstrom.

Not much is known regarding how this gene works but we do know that when something goes wrong within this gene, the consequences are many and encompass multiple organ systems.

Because the features of Alstrom can be so wide-spread and also variable, misdiagnosis is common, especially early on before some of the classic symptoms develop.

What is Altrom Syndrome

Common Misdiagnoses• Bardet Biedl Syndrome

(Blue)• Achromatopsia (Red)• Leber Congenital

Amaurosis (Green)• Mitochondrial Disorder

(Purple)• Usher (Teal)• Retinitis Pigmentosa

(Orange)• Niemann-Pick (Blue)

Vision loss Hearing loss Obesity which can lead to Type 2 Diabetes (as early as age 4) Cardiomyopathy – enlargement of the heart’s lower chambers

due to a weakened heart muscle Acanthosis Nigricans – a skin disorder characterized by a

increased pigmentation and velvety thickening Pancreatitis – due to elevated levels of certain fats in the blood Enlarged liver and spleen Kidney disease, including kidney failure

*Not all patients develop all symptoms. They do vary from person to person.

Associated Medical Conditions

Parts of the Eye Affected• The neural retinal layer

contains millions of cells, called the photoreceptors, which are able to respond to light with an electrical signal.

• Cone cells, concentrated in the central portion of the retina, contain light-sensitive pigments that enable us to see fine detail and color.

• Rod cells, absent from the center of the retina, but dense everywhere else, enable peripheral vision and vision in dim light or darkness.

• Retinal dystrophy is a general term to describe a condition where there is degeneration of the cells in the retina.

Some of the first vision symptoms, nystagmus and photophobia, are revealed at birth. They are caused by the slow degeneration of the retina. Retinal Dystrophy.

Typically the cones deteriorate first in the eyes of children

who have Alstrom Syndrome, so the vision that they experience comes only from the rods. As they get older the rods may also stop working.

 About 39% of people with Alstrom Syndrom develop cataracts. The most likely cause of cataract formation is the substances released from the degenerating retina that damage the lens, causing it to become opaque from the back.

Eye Conditions

Eye Conditions

Normal Vision

Early Visual

Defects

Late Visual

Defects

1. Photophobia and Nystagmus

2. Low Visual Acuity3. Visual Fields4. Color Vision

Functional Implications

Many individuals with Alstrom Syndrome develop photophobia, light sensitivity. This happens because the lack of function in the cone cells causes the rods to become over saturated, especially in bright light.

As the the retinal dystrophy progresses, the rods become less sensitive and the photophobia diminishes.

Red/orange tinted prescription lenses can help reduce light sensitivity.

Move the student to a position within the class where the glare is not reflected off windows, mirrors, wet or shiny surfaces, or white and brightly coloured surfaces.

Sunglasses and a hat are worn outdoors and perhaps indoors as well.

Functional Implications – Photophobia and Nystagmus

Usually less than 20/200 by age 3 (Malm, E et al, 2008)

By 9 years of age, approximately one-third of patients are totally blind; 50% by age 12, and 90% by age 16 (JD Marshall et al, 2007)

Dual media is often used, however Braille literacy must be introduced at a young age

Some individuals can read large print into their third decade, although this is rare

May benefit from a CCTV and magnifiers

Functional Implications–Low Visual Acuity

Functional Implications – Visual Field Loss.• Increasing constriction of visual fields• Orientation and mobility training• Keep the classroom layout as static as possible• Seating in the classroom should be where the child’s

seeing field is maximized for visual materials presented and to view the teacher during instruction, usually in the front and centre

Due to developing cone-rod dystrophy, color perception is affected

Present materials on backgrounds that offer high contrast to the objects being viewed.

Students can print or draw using black markers on white paper.

Label pictures with color words such as maps or diagrams.

Functional Implications – Color Vision

Alstrom Syndrome International: They provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alström Syndrome. https://www.alstrom.org/

NORD: National Organization for Rare Diseases. https://rarediseases.org/rare-diseases/alstrom-syndrome/

Our textbook! Foundations of Low Vision. Regardless of the diagnosis we use adaptations/accommodations that fit the specific functional vision implications for each of our students.

Helpful Resources

……that intelligence is usually unaffected in individuals with Alstrom Syndrome!!

Please Remember….

Alstrom Syndrome International website. (2015). Supporting those affected by Alstom Syndrome. Retrieved from https://www.alstrom.org/

Practical Genetics. (2007). Alstom Syndrome. Retrieved from http://web.b.ebscohost.com.ezproxy.msvu.ca/ehost/pdfviewer/pdfviewer?sid=120edb8d-d9c6-43b3-bb0b-9e78 3cacce8b%40sessionmgr198&vid=1&hid=109

Malm, E et al. (2008). Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome. Retrieved from http://archopht.jamanetwork.com/article.aspx?articleid=420223

 NORD. (2015). Alstom Syndrom. Retrieved from https://rarediseases.org/rare-diseases/alstrom-syndrome/

References:

ColobomaPresented by Carla Giesbrecht

What is a Coloboma

Coloboma comes from the Greek word meaning “curtailed” or “unfinished”.

Corn and Erin (2012) define a coloboma as a congenital malformation of one or both eyes.• A coloboma forms when the eye fails to develop causing a

gap/notch in one or more structures of the eye.• Colobomas affect 1/10 000 infants.

Causes of Coloboma

Colobomas:

• Are an inherited condition that is autosomal-dominant in nature.• Can occur with no previous family history.• May be caused by environmental issues such as fetal

alcohol exposure.

The Diagnosis of Coloboma

The diagnosis is made by an ophthalmologist.• The ophthalmologist uses an ophthalmoscope to examine the

eye.• Visual acuity may not be initially assessed because of the age

of the child.• Symptoms of the condition occur on a spectrum from mild to

severe.• A pediatrician may perform an assessment if an associated syndrome is suspected.

https://s-media-cache-ak0.pinimg.com/236x/62/3e/be/623ebe4bd321b8bafa8f0eebe3836279.jpg

Parts of the Eye Affected

A number of structures of the eye may be affected:

• Iris• Lens• Retina• Optic Nerve

A coloboma can also form on the eyelid, however the cause may be different than for the structures affected in the globe of the eye.

National Eye Institute

Iris Coloboma

Iris colobomas are the most common form of colobomas.

• The pupil of the eye may appear like a teardrop or keyhole.

• The iris and vision may be only minimally affected.

• The child may experience photophobia, double vision, blurring or ghosting.

http://ohiolionseyeresearch.com/files/glossary/coloboma.jpg

Lens Coloboma

Lens Colobomas:

• Affect the lens of the eye.

• Will appear as a notch or gap in the lens.

• May affect the ciliary body and not involve the lens at all.

National Eye Institute

Retinal Coloboma

Retinal Colobomas:

• Occur when the development of the retina is disturbed.• Can be bilateral or symmetrical.• Can be asymptomatic or cause vision loss.• May reduce visual acuity.• May cause a visual field loss.• May cause a retinal detachment.• May cause strabisumus or nystagmaus.

Macular Coloboma National Eye Institute

Optic Nerve Coloboma

The optic nerve can be affected in two ways:1. The optic nerve is hollowed often called the optic nerve pit.2. A retinal or iris coloboma that is large enough that it

includes the optic nerve.

Morning glory disc anomaly is another coloboma associatedwith the optic nerve.

Optic Nerve Coloboma National Eye Institute

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800004

Effects on Vision

The effect of the coloboma is due to the extent of the gap and were it is located in the structure of the eye.

• If the coloboma occurs in the eye vision may not be affected.

• If the coloboma occurs in the retina or the optic nerve vision could be significantly affected.

• Children with colobomas may also experience cataracts, glaucoma, myopia, nystagmus and retinal detachment.

Treatment

There is currently no medication or surgery to repair the part of the eye that fails to close.• Treatment is dependent upon the extent of the

coloboma and varies for individuals.• Management of the coloboma may include:• Glasses or contact lenses• Patching• Treatment of other eye conditions• Treating complications• Use of low vision devices• Early intervention• Genetic counseling

Other Effects that May Occur

• Heterochromia• Microphthalmia• Increased thickness of the cornea• Cataracts• Glaucoma• Retinal dysplasia• Myopia or hyperopia• Nystagmus

Infant with microphthalmia

http://ocularpro.com/prosthetic-eye-services-los-angeles/anophthalmia-and-microphthalmia/

Associated Syndromes

Colobomas can be associated with a number of syndromes:• CHARGE Syndrome• A syndrome with multiple organs affected, including heart

defects, blocked nasal passage, retarded growth or development, genital abnormalities and ear abnormalities and deafness.

http://chargesyndrome.org/index.asp

Associated Syndromes Continued

• Epidermal Naevus Syndrome• Cat Eye Syndrome• Kabuki Syndrome• Pataus’ Syndrome• Edward’s Syndrome• Wolf-Hirschhorn Syndrome• MIDAS Syndrome• Michrophthalmia• Dermal Aplasia• Sclerocornea

Infant with Kabuki Syndrome

http://syndromespedia.com/kabuki-syndrome.html

Seeing Better

There are a number of things parents can do to ensure that that their child’s vision develops as well as it can before entering school.

• Ensure that their child wears prescribed eyewear• Observe their child in play• Minimize visual clutter• Seek early intervention• Expose their child to as many activities and experiences as possible

http://www.telegraph.co.uk/women/mother-tongue/familyadvice/10528194/Pictures-of-our-children-at-play-will-soon-be-museum-pieces.html

Vision At School

It is important that school staff develops a good understanding of the student’s visual needs.

• Communicate with parents• Complete a Functional Vision Assessment if required• Complete a Learning Media Assessment if required• Implement recommendations• Provide service from the TSVI if required

https://edueval.wordpress.com/2015/01/25/progressive-vision-in-dubai-private-schools-at-what-works-2015/

Optimizing Student Visual Performance

The Texas School for the Blind and Visually Impaired recommend considering the following when optimizing student’s visual performance in the classroom.• Consider the etiology• Effects of light• Field deficits• Eye motor• Posture• Organization• Lighting on work surfaces, projectors and screens• Writing tools and materials• Optical devices

Classroom Adaptions and Accommodations

Low vision • Use large print materials. • Provide with preferential seating- close to the board and central Verbalize what is been

written.• Provide the student with a printed copy of notes.• Pre-teach or review books or movies to be viewed as a whole class.• When the student is writing a test, ensure that the student can read the font before

beginning the test; provide the student with extra time to write exams.• Allow the student to explore new environments. • At assemblies or large group gatherings provide preferential seating and explain what is

happening.• APHont can be downloaded to use on worksheets.

• http://www.aph.org/products/aphont/ • Encourage the use of prescribed glasses.• Encourage the use of their vision.• If it is appropriate and has been prescribed by a low vision specialist the student may

benefit from the use of a hand held magnifier of CCTV.• Be aware of visual fatigue.

Photophobia

• Adjust the distance the student sits from the window or light source as needed, sitting with the students back to the window.

• Spot light reading material or use of a filter over top of reading material if bright lighting is an issue.

• Avoid or be aware of glare on surfaces.• Student may benefit from wearing sunglasses, hat or visor.• Reduce or diffuse lights.

http://lookfordiagnosis.com/mesh_info.php?term=photophobia&lang=1

Visual Field Loss• Ensure that the student is made aware of any changes to the

environment.• Provide contrast on stairs and playground. • During physical education ensure that the student is aware of

projectiles that are coming towards them.• Announce yourself when you are approaching the student.• Allow the student to view materials through their best visual

field.• Teach the student to stop, look and then move.• Avoid visual clutter within the environment.• Tack or tape down scatter mats in the classroom.• Teach the students to push in their chairs.• Provide the student with access to and O&M Specialist.

Colour Vision• Provide the student with high contrast materials.• Supplement visual tasks with auditory and tactile information.• Depending on the student they may require similar adaptions as

those with photophobia.

Contrast • When using a white board write with dark markers such as black.• Avoid the use of red, orange and yellow on white boards and

anchor charts.• Provide the student with good photocopies of materials. (Blurred

or fuzzy lines are hard to read, provide white space)• Worksheets and written materials should be of an appropriate

font size, of high contrast (bold) and contain well-spaced words/letters.

A Final Word From A Parent• https://www.youtube.com/watch?v=ZrOgNYCZtDE

If Time…..• https://www.youtube.com/watch?v=nHksmsCJgpo

Websites

Resources • Statewide Vision Resource Center

http://www.svrc.vic.edu.au/index.shtml• Teaching Students with Visual Impairment

http://www.teachingvisuallyimpaired.comVideos related to CHARGE Syndrome: http://www.perkinselearning.org/videos/webcast/charge-syndrome-teaching-strategies-children

http://www.perkinselearning.org/videos/webcast/charge-syndrome-impact-of-charge-on-communication-and-learning http://www.perkinselearning.org/videos/webcast/charge-syndrome-overview

ReferencesBlaikie, A.Medical information on coloboma. Retrieved from http://www.ssc.education.ed.ac.uk/resources/vi&multi/eyeconds/colob.html

Corn, Anne and Erin, Jane (Ed.). (2010). Foundations of low vision: Clinical and functional perspectives (2nd ed.). New York: American Foundation for the Blind.

Cowan, Chrissy and Texas School for The Blind.Possible accomodations for the student with a visual impairment. Retrieved from http://www.tsbvi.edu/instructional-resources/62-family-engagement/3657-vision-accommodations

Genetics Home Reference.Coloboma. Retrieved from http://ghr.nlm.nih.gov/condition/coloboma

National Eye Institute.Facts about uveal coloboma. Retrieved from https://nei.nih.gov/health/coloboma/coloboma

Patient.Coloboma. Retrieved from http://patient.info/doctor/coloboma

Rao, Elsie and Texas School for the Blind.Considerations for low vision students in A classroom. Retrieved from http://www.tsbvi.edu/program-and-administrative-resources/53-resources/program-and-administration-resources/3277-considerations-for-low-vision-students-in-a-classroom

RNIB.Coloboma. Retrieved from http://www.rnib.org.uk/eye-health-eye-conditions-z-eye-conditions/coloboma

Peter’s AnomalyOverview of

What is Peter’s Anomaly? It is a congenital condition which occurs

in the first trimester before the anterior chamber of the eye is completely formed.

The Dictionary of Eye Terminology describes Peter’s Anomaly as a “central corneal malformation characterized by adhering of the iris to Descemet’s membrane and the endothelium” (Cassin & Solomon, 1990)

Peter’s Anomaly

Peter’s Anomaly

The cause is unknown but can be: Inherited: ▪ Autosomal recessive (CYP1B1 gene)▪ Autosomal Dominant (FOXC1, PAX6, or PITX2 gene)

Environmental Both

Two types: Type I , Type II Very rare Approximately half of the population with PA

have low vision early in life and a quarter are legally blind

Types I & II

Type I: ▪may or may not have cataracts; lens does not adhere to the cornea▪80% bilateral

Type II: ▪Corneal clouding is typically denser ▪cataracts present and adhere to the cornea▪Usually bilateral ▪ Iris may or may not be present

Parts of the Eye Involved

Anterior chamber Cornea Iris Pupil Lens

Cornea

Clouding of the cornea can be partial, central or complete

Microcornea

Cornea plana

Iris

Aniridia

Coloboma

Lens

Cataracts

Dislocation of the lens

Attachment of the lens to the cornea

Associated Eye Conditions Glaucoma (90%) Microphthalmia Coloboma of the Choroid Persistent Hyperplastic Primary

Vitreous (PHPV) Amblyopia Nystagmus Optic Nerve Hypoplasia or Atrophy

Systemic Issues

Type II associated with more systemic issues developmental delay congenital heart disease structural defects of the neurologic system spinal defects genitourinary abnormalities external ear abnormalities and hearing loss cleft lip and palate short stature

Treatment

Medical care: Medication to manage glaucoma

Surgical care: Keratoplasty Lensectomy/vitrectomy

Other Care: Genetic counselling Low Vision Specialist

Visual Acuity

Near and Distance Visual Acuity

Blurred vision low vision legal blindness Blind

Vision may fluctuate May or may not use corrective lenses/protective

lenses Implications are varied (FVA/LMA)

Visual Fields

Visual fields: Peripheral loss Central loss, blind spots

Implications are varied (FVA/LMA/O&M)

Light and Glare Light sensitivity Glare sensitivity

May need to wear visor, tinted glasses, light control (high or low)

May need time to adjust to lighting changes

Contrast

Contrast Sensitivity - May have difficulty with details, locating

objects- May use materials to increase contrast or

highlight important visual information (eg. light, black placemat)

- CCTV

Colour

Poor colour vision May not be able to distinguish between

similar shades. May need to label items tactually to

identify colour

Depth Perception

Reduced or absent depth perception Implications in mobility and motor

planning

Other considerations …

Eye fatigue Fluctuating visual abilities Eccentric viewing Diploplia Poor night vision Pain or headaches

Resources

Corneal Disease Informationhttps://nei.nih.gov/health/cornealdisease/

Peter’s Anomaly (genetics diagram)http://disorders.eyes.arizona.edu/handouts/peters-anomaly

Peter’s Anomaly (parent video)http://childrenseyefoundation.org/meet-little-ambassadors/peters-anomaly-in-children/

Low Vision: A Resource Guide with Adaptations for Students with Visual Impairments (Levack, N.) TSBVI

ReferencesCassin, B. & Solomon, S. (1990). Dictionary of Eye

Terminology, Second Edition. Triad Publishing. p. 206.

Corn, A. & Erin, J. (2010). Foundations of Low Vision: Clinical and Functional Perspectives. AFB Press.

Giri, G. (2015). Peters Anomaly Clinical Presentation. Retrieved from http://emedicine.medscape.com/article/1200372-clinical#b4

Levack, N. (2004). Low Vision: A Resource Guide with Adaptations for Students with Visual Impairments, Second Edition. TSBVI.

U.S. National Library of Medicine. (November 9, 2015). Peter’s Anomaly. Retrieved from http://ghr.nlm.nih.gov/condition/peters-anomaly