visual problems associated with syndromes
DESCRIPTION
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 [email protected] low-vision.org. How Images Focus Inside the Eye. Diagram of perspective of eye with E focusing on macula. Visual Pathway. - PowerPoint PPT PresentationTRANSCRIPT
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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
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How Images Focus Inside the Eye• Diagram of perspective of eye with E
focusing on macula
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Visual Pathway
• Diagram of visual pathway
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Visual Cortex Processes Info
• Diagram of occipital lobe PET scan
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– 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
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Aicardi Syndrome• Agenesis of the
corpus callosum• Lesions on the retina• Infantile spasms• Hydrocephalus• Gastro intestinal
problems• May have shortened
lifespan
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Bardet-Biedl Syndrome
• Retinitis Pigmentosa• Short stature• Stocky• Additional fingers or
toes• Developmental delay
• Photo of hands with 6 fingers
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C.H.A.R.G.E. Syndrome
• Coloboma• Heart Anomaly• Atresia of choane• Retardation• Gastrointestinal
genital • Ears
• Illustration of Coloboma
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Down Syndrome
• Cataract• Strabismus• Refractive Error• Nystagmus• Developmental Delay
• Photograph of Down Syndrome
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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
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Marfan Syndrome
• Retinal detachment• Retinal tear• Cataract• Subluxated Lens• Connective tissue
disorder • Aneurysm of aorta
• Adult with Marfan Syndrome
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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
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Rieger Syndrome
• Axenfeld Syndrome• Cornea• Glaucoma • Cataract• Developmental Delay
• Rieger Syndrome Teeth
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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
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Stickler Syndrome
• Retinal detachment• Hearing impairment • Joint abnormalities• Bird-like appearance
• Photo of Child with Stickler Syndrome
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Usher Syndrome
• Retinitis Pigmentosa• Hearing impairment• Night blindness• Tunnel vision
• Tunnel Vision simulator
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Von Recklinghausen Syndrome
• Multiple tumors• Retinal scarring• Hearing impairment• Scoliosis• Dominant inheritance• Chromosome 17
• Child with Von Recklinghausen Syndrome
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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
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Esotropia Strabismus
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Exotropia Strabismus