Visual Problems Associated with Syndromes

Bill Takeshita, O.D., F.A.A.O., F.C.O.V.D.

The Center for the Partially Sighted

310.597.2549bill@drbillfoundation.org

low-vision.org

How Images Focus Inside the Eye• Diagram of perspective of eye with E

focusing on macula

Visual Pathway

• Diagram of visual pathway

Visual Cortex Processes Info

• Diagram of occipital lobe PET scan

– 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

Aicardi Syndrome• Agenesis of the

corpus callosum• Lesions on the retina• Infantile spasms• Hydrocephalus• Gastro intestinal

problems• May have shortened

lifespan

Bardet-Biedl Syndrome

• Retinitis Pigmentosa• Short stature• Stocky• Additional fingers or

toes• Developmental delay

• Photo of hands with 6 fingers

C.H.A.R.G.E. Syndrome

• Coloboma• Heart Anomaly• Atresia of choane• Retardation• Gastrointestinal

genital • Ears

• Illustration of Coloboma

Down Syndrome

• Cataract• Strabismus• Refractive Error• Nystagmus• Developmental Delay

• Photograph of Down Syndrome

Goldenhar Syndrome

• 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

Marfan Syndrome

• Retinal detachment• Retinal tear• Cataract• Subluxated Lens• Connective tissue

disorder • Aneurysm of aorta

• Adult with Marfan Syndrome

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

Rieger Syndrome

• Axenfeld Syndrome• Cornea• Glaucoma • Cataract• Developmental Delay

• Rieger Syndrome Teeth

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

Stickler Syndrome

• Retinal detachment• Hearing impairment • Joint abnormalities• Bird-like appearance

• Photo of Child with Stickler Syndrome

Usher Syndrome

• Retinitis Pigmentosa• Hearing impairment• Night blindness• Tunnel vision

• Tunnel Vision simulator

Von Recklinghausen Syndrome

• Multiple tumors• Retinal scarring• Hearing impairment• Scoliosis• Dominant inheritance• Chromosome 17

• Child with Von Recklinghausen Syndrome

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

Esotropia Strabismus

Exotropia Strabismus