Visual Problems Associated with Syndromes Bill Takeshita O

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

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

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

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

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, • Photo of glaucoma Rubenstein-Taybi • Short stature • Developmental delay • Abnormally wide thumb and first toe • Speech and oral motor delays

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