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Down syndrome “the eyes have it”

Michael A. Kipp, MD. Down syndrome “the eyes have it”. Top 10 Conditions. Strabismus High refractive errors Brushfield spots Keratoconus Pseudopapilledema. Congenital cataracts Nystagmus Glaucoma Tear duct obstruction Amblyopia. Cataracts. Congenital: bilateral, severe

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Down syndrome “the eyes have it”

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  1. Michael A. Kipp, MD Down syndrome “the eyes have it”

  2. Top 10 Conditions Strabismus High refractive errors Brushfield spots Keratoconus Pseudopapilledema • Congenital cataracts • Nystagmus • Glaucoma • Tear duct obstruction • Amblyopia

  3. Cataracts • Congenital: bilateral, severe • Early onset adult: variable severity • Early surgery by age 1-2 months • Contact lens or high Rx spectacles • Lens implant? • EUA: glaucoma, retinal detachment • Amblyopia, strabismus, nystagmus

  4. Glaucoma • Primary infantile • Secondary: aphakic (after cataract surgery) • Cloudy and enlarged cornea • Light sensitivity • Surgical treatment • Topical medications • Permanent visual loss optic nerve damage • EUA

  5. Nystagmus • Rhythmic oscillation of eyes • Many types • Visual disruption mild to severe • Head postures for “null point” • Eye muscle surgery for head postures • ? Eye muscle surgery for improved vision

  6. Amblyopia • Permanent loss of vision during visual development from lack of proper usage • Usually unilateral, can be bilateral • Caused by strabismus, anisometropia or some organic pathology • Treat underlying cause • Glasses • Patching

  7. Strabismus • Misalignment of visual axes of the two eyes • Horizontal (esotropia, exotropia) • Vertical • Can cause amblyopia • Loss of stereopsis (fine depth perception) • Accommodative esotropia • Treat with glasses, eye muscle surgery

  8. Tear duct obstruction • Very common • Frequent excessive tearing and discharge • Conjunctivitis, dacrocystitis • Spontaneous resolution possible • Tear duct probing • Office before age 6 months • In OR under anesthesia after age 1 year • Lacricath • Tubes: Monoka, Crawford

  9. Refractive errors • Hyperopia: far-sighted • Myopia: near-sighted • Astigmatism: abnormal curvature cornea • Anisometropia: difference between eyes • High refractive errors common; need to be checked early • Accommodation reduced: bifocals

  10. Brushfield Spots • White spots on peripheral iris • Over 50% of people with Down syndrome • More common in caucasian • “Marker” of Down syndrome • No visual consequences

  11. Keratoconus • “Cone shape” of cornea • High astigmatism • Higher incidence in Down syndrome • Presents in adulthood • Contact lenses, corneal transplant • Related to eye rubbing???

  12. Pseudopapilledema • Apparent swelling of optic nerves • Papilledema: swollen optic nerves from increased pressure in brain • Mass lesion • PseudotumorCerebri • Rule out mass in brain with MRI (?) • Rule out pseudotumorcerebri with spinal tap (?) • Document and follow up

  13. What to look for • Wandering eye • Tearing and discharge • Shaking of eyes • Abnormal head postures • Closing one eye • Cloudy cornea, enlarged eye, light sensitive

  14. Tips and Tricks • Erin’s World frames • “Water wings” for elbow restraints if needed • Get tear duct probing done with other procedures requiring anesthesia • Yearly eye exam starting 6-12 months old

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