1. Visual Problems Associated with Syndromes
Bill Takeshita, O.D., F.A.A.O., F.C.O.V.D.
The Center for the
Partially Sighted
low-vision.org

2. How Images Focus Inside the Eye
Diagram of perspective of eye with E focusing on macula

3. Diagram of visual pathway

4. Visual Cortex Processes Info
Diagram of occipital lobe PET scan

5. Angelman Prader Willy Syndrome
Chromosome 15
Insatiable appetite
Jerky movement
Extremely happy
Microcephaly
Seizure
Strabismus
Developmental delay
Loves playing with water and krinkly paper
Photo of Angelman syndrome

6. Aicardi Syndrome Agenesis of the corpus callosum Lesions on the retina
Infantile spasms
Hydrocephalus
Gastro intestinal problems
May have shortened lifespan

7. Bardet-Biedl Syndrome
Retinitis Pigmentosa
Short stature
Stocky
Additional fingers or toes
Developmental delay
Photo of hands with 6 fingers

8. C.H.A.R.G.E. Syndrome Coloboma Heart Anomaly Atresia of choane
Retardation
Gastrointestinal genital
Ears
Illustration of Coloboma

9. Down Syndrome Cataract Strabismus Refractive Error Nystagmus
Developmental Delay
Photograph of Down Syndrome

10. Goldenhar Syndrome
Photo of girl with Goldenhar Syndrome, left-side of face
Dermoids on upper eye
Cranio-facial anomaly on one side of face
Abnormally developed ears
Hearing impairment

11. Marfan Syndrome Retinal detachment Retinal tear Cataract
Subluxated Lens
Connective tissue disorder
Aneurysm of aorta
Adult with Marfan Syndrome

12. Rett Syndrome Normal development for first 18 months
Motor skills deteriorate
Rub hands or hands in mouth
Girls more than boys
Rely on their eyes to attempt to communicate

13. Rieger Syndrome Axenfeld Syndrome Cornea Glaucoma Cataract
Developmental Delay
Rieger Syndrome Teeth

14. Rubinstein-Taybi Syndrome`
Cataracts, strabismus, glaucoma
Short stature
Developmental delay
Abnormally wide thumb and first toe
Speech and oral motor delays
Photo of Rubenstein-Taybi

15. Stickler Syndrome Retinal detachment Hearing impairment
Joint abnormalities
Bird-like appearance
Photo of Child with Stickler Syndrome

16. Usher Syndrome Retinitis Pigmentosa Hearing impairment Night blindness
Tunnel vision
Tunnel Vision simulator

17. Von Recklinghausen Syndrome
Multiple tumors
Retinal scarring
Hearing impairment
Scoliosis
Dominant inheritance
Chromosome 17
Child with Von Recklinghausen Syndrome

18. William Syndrome Chromosome 7 Overly friendly and talkative
Low bridge of nose, teeth may be spaced apart
Heart and blood vessels narrow
Hypercalciumia
Reduced visual spatial perception skills
May have hearing impairment

19. Esotropia Strabismus

20. Exotropia Strabismus