1. GEPY 6911: Functional Implications of Visual Impairment
Session 10: Wednesday, November 18, 2015:
Psychosocial Effects of Low Vision
Student Presentations

2. Housekeeping/Agenda Presentations continue next week!
Those presenting should 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

3. Guest Speaker: Peter Parsons
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 
Peter on a recent visit to
CNIB Halifax

4. Alstrom Syndrome
A very rare genetic disease with just over 1000 identified cases worldwide
By Laura Glass
Saskatoon has 3 known cases, with myself teaching one of them.

5. What is 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 Sweden
received doctorate in psychology in 1935
conducted genetic research in the 40’s
In 1959 he described 3 patients in his
manuscript describing the symptoms of Alstom Syndrome
NORD – National Organization for Rare Disorders
Described three patients (that were related) in an elegant and very thorough manuscript published in 1959, detailing the apparently recessive hereditary combination of retinal degeneration, obesity, sensorineural hearing loss, and diabetes.
Family history is considered a major criteria in the diagnosis of Alstom Syndrome. The identification the ALMS1 gene in the presence of typical clinical features confirms diagnosis.  

6. What is Altrom 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.

7. Common Misdiagnoses Bardet Biedl Syndrome (Blue) Achromatopsia (Red)
Leber Congenital Amaurosis (Green)
Mitochondrial Disorder (Purple)
Usher (Teal)
Retinitis Pigmentosa (Orange)
Niemann-Pick (Blue)

8. Associated Medical Conditions
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.
Delay of some of the characteristic features (type 2 diabetes, cardiomyopathy, liver disease, and kidney failure) makes differential diagnosis very difficult, especially in young children.

9. 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.
The neural retinal layer contains millions of cells, called the photoreceptors, which are able to respond to light with an electrical signal. Cone cells about 6-7 million concentrated in the central portion of the retina, contain light-sensitive pigments that enable us to see fine detail and color. About 120 million rod cells, absent from the center of the retina, but dense everywhere else, enable peripheral vision and vision in dim light or darkness. Rods are more than 1000 times more sensitive to light than cones. They cannot detect color, but they do perceived shades of grey, black, and white. Retinal dystrophy is a general term to describe a condition where there is degeneration of the cells in the retina.
retinal pigment epithelium (RPE) is the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells.[1][2]

10. Eye Conditions
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.
The photoreceptors that are used for color vision and seeing in well-lit situations are called “cones.” Typically the cones deteriorate first in the eyes of children who have Alstrom Syndrome. The photoreceptors that remain are called “rods.” They work best in dimly lit situations. The rods may also stop working as the person who has Alstrom Syndrome gets older.
This eye condition is called cone-rod dystrophy. Sometimes it is diagnosed as retinitis pigmentosa.  Vision gradually decreases during childhood, and by late teen years people who have Alstrom Syndrome are left with very little or no vision It is important to anticipate vision loss and begin Braille skills and orientation and mobility training early.

11. Eye Conditions
Normal Vision
Early Visual Defects
Late Visual Defects

12. Functional Implications
1. Photophobia and Nystagmus
2. Low Visual Acuity
3. Visual Fields
4. Color Vision

13. Functional Implications – Photophobia and Nystagmus
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.
My student and I work on our braille literacy skills in a room that has a dimmer switch.
Control the light within the school building by the use of blinds on windows

14. Functional Implications–Low Visual Acuity
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
My 6 year old student with Alstrom Syndrome currently has a 20/650 visual acuity.

15. 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
-Visual fields tested with Goldmann perimetry
- with severe constricted peripheral limits at the ages of 7 and 12 years. 

16. Functional Implications – Color Vision
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.
Cone cells are found throughout the retina with the highest concentration clustered in the oval-shaped, yellowish area near the center of the retina (macula). Cone cells are involved in the part of vision that enables a person to see fine details, read or recognize faces. Cone cells also play a role in the perception of color. 
My student has a black finish on the top of her desk

17. Helpful Resources
Alstrom Syndrome International: They provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alström Syndrome.
NORD: National Organization for Rare Diseases.
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.

18. Please Remember….
……that intelligence is usually unaffected in individuals with Alstrom Syndrome!!
Show iMovie with my student

19. References:
Alstrom Syndrome International website. (2015) Supporting those affected by Alstom Syndrome. Retrieved from
Practical Genetics. (2007). Alstom Syndrome. Retrieved from dfviewer?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
 NORD. (2015). Alstom Syndrom. Retrieved from

20. Presented by Carla Giesbrecht
Coloboma
Presented by Carla Giesbrecht

21. 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/ infants.

22. 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.

23. 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.

24. 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

25. 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.

26. 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

27. 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

28. Optic Nerve Coloboma The optic nerve can be affected in two ways:
The optic nerve is hollowed often
called the optic nerve pit.
A retinal or iris coloboma that is large enough that it includes the optic nerve.
Morning glory disc anomaly is
another coloboma associated
with the optic nerve.
Optic Nerve Coloboma National Eye Institute

29. 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.

30. 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

31. Other Effects that May Occur
Heterochromia
Microphthalmia
Increased thickness of the cornea
Cataracts
Glaucoma
Retinal dysplasia
Myopia or hyperopia
Nystagmus
Infant with microphthalmia

32. 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.

33. 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

34. 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

35. 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

36. 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

37. 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.
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.

38. 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.

39. 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.

40. Colour Vision Contrast
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.

41. A Final Word From A Parent

42. If Time…..

43. Websites Resources http://www.svrc.vic.edu.au/index.shtml
Statewide Vision Resource Center
Teaching Students with Visual Impairment
Videos related to CHARGE Syndrome:

44. References
Blaikie, A.Medical information on coloboma. Retrieved from 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 Genetics Home Reference.Coloboma. Retrieved from National Eye Institute.Facts about uveal coloboma. Retrieved from Patient.Coloboma. Retrieved from Rao, Elsie and Texas School for the Blind.Considerations for low vision students in A classroom. Retrieved from RNIB.Coloboma. Retrieved from

45. Overview of
Peter’s Anomaly

46. 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)
The development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens.

47. Peter’s Anomaly

48. 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

49. 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

50. Parts of the Eye Involved
Anterior chamber
Cornea
Iris
Pupil
Lens

51. Cornea Clouding of the cornea can be partial, central or complete
Microcornea
Cornea plana

52. Iris
Aniridia
Coloboma

53. Lens Cataracts Dislocation of the lens
Attachment of the lens to the cornea

54. Associated Eye Conditions
Glaucoma (90%)
Microphthalmia
Coloboma of the Choroid
Persistent Hyperplastic Primary Vitreous (PHPV)
Amblyopia
Nystagmus
Optic Nerve Hypoplasia or Atrophy

55. 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

56. Treatment Medical care: Surgical care: Other Care:
Medication to manage glaucoma
Surgical care:
Keratoplasty
Lensectomy/vitrectomy
Other Care:
Genetic counselling
Low Vision Specialist

57. 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)

58. Visual Fields Visual fields: Peripheral loss Central loss, blind spots
Implications are varied (FVA/LMA/O&M)

59. 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

60. 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

61. Colour Poor colour vision
May not be able to distinguish between similar shades.
May need to label items tactually to identify colour

62. Depth Perception Reduced or absent depth perception
Implications in mobility and motor planning

63. Other considerations …
Eye fatigue
Fluctuating visual abilities
Eccentric viewing
Diploplia
Poor night vision
Pain or headaches

64. Resources
Corneal Disease Information Peter’s Anomaly (genetics diagram) Peter’s Anomaly (parent video) Low Vision: A Resource Guide with Adaptations for Students with Visual Impairments (Levack, N.) TSBVI

65. References
Cassin, 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
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