Visual Problems Associated with Syndromes

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 310.597.2549 bill@drbillfoundation.org low-vision.org

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

3. Visual Pathway • Diagram of visual pathway

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

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

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

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

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

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

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

11. Retinal detachment Retinal tear Cataract Subluxated Lens Connective tissue disorder Aneurysm of aorta Adult with Marfan Syndrome 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. Axenfeld Syndrome Cornea Glaucoma Cataract Developmental Delay Rieger Syndrome Teeth Rieger Syndrome

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

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

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

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