What s New in Pediatric Ophthalmology
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1 What s New in Pediatric Ophthalmology Forrest J Ellis MD Northern Virginia Ophthalmology Associates Falls Church, Fairfax, Alexandria (Milan, Paris, Singapore, London)
2
3 What s New Myopia treatment Retinopathy of Prematurity Vision Screening Genetics of Strabismus
4 Myopia
5 Myopia Most common eye problem worldwide 20% of world population 10% of US school age Children Asians> Hispanics> Caucasians and African Americans 77% of High school children in China 99% of current South Korean high school graduates
6 Why do we care? Lifetime increased risks Cataract Glaucoma Retinal detachment Macular degeneration Costs $125 per myopic child per year direct costs $90 per capita for all eye disease per year US $10 billion per year on myopia
7 Myopia risk factors Genetics Environmental (no strong correlation) Near work Computer games Environmental (positive correlation) Urbanization associated with increasing rates of myopia Higher IQ Time spent indoors (not spent outdoors)
8 Myopia Associated Disorders Ocular Disease Congenital Glaucoma ROP RP Cataract CSNB Keratoconus Aland eye disease Gyrate Atropy Pseudomyopia Albinism Multi-system disease Sticklers Syndrome Diabetes Mellitus (uncontrolled) Marfan Weill-Marchesani Knobloch Ehlers Danlos
9 Myopia - Treatment Glasses Contact Lenses Refractive Surgery
10 What if glasses invented after Lasik? Amazing new device eliminates need for millions to undergo expensive eye procedure
11 Myopia progression management Atropine topical eye drops Orthokeratology Bifocals Specialty fit contact lenses Peripheral optical blur
12 Atropine Trials for Myopia control ATOM 1 Atropine 1% ophthalmic Nonspecific muscarinic acetylcholine receptor antagonist Atropine 1% each eye at bedtime ATOM 1 ( ) 77% REDUCTION IN PROGRESSION OF MYOPIA Significant rebound once treatment discontinued Side effects Pupil dilation Paralysis of near focus
13 ATOM 2 Lower dose atropine (2 year study) 0.5%, 0.1%, 0.01% All clinically similar results 0.01% atropine drop No pupil dilation No near defocus No rebound effect when discontinued No cases of allergic or chemical conjunctivitis Atropine decreased myopic progression and axial length elongation by >50%
14 ATOM 1 and 2
15 Alternative treatments Orthokeratology (ortho-k) (CRT) Contact lens worn at night to reshape cornea Effect lasts about 3 days Ortho-K to prevent myopia progression Limited long term studies Similar results to treatment with glasses and Atropine 0.01% Risks include bacterial keratitis
16 Recommendations to prevent or slow down Myopia Increase time outdoors Atropine 0.01% each eye at bedtime Probably can stop after puberty Full myopic power correction No evidence that glasses or contacts increase rate of myopia correction Bifocals Small effect
17 Retinopathy of Prematurity
18 Retinopathy of Prematurity Disease of the retina of premature infants Risk factors Lower birth weight Lower gestational age Many additional risk factors Caused by disorganized blood vessel growth in the developing infant eye.
19
20
21 ROP laser treatment
22 ROP Zone 1
23 Advanced ROP
24 Bevacizumab (Avastin) for ROP BEAT ROP Bevacizumab (Avastin) vs Laser in ROP. Prospective, controlled, randomized, stratified, multicenter trial Intravitreal bevacizumab monotherapy for zone I or zone II posterior stage 3 ROP with plus disease. Avastin showed a significant benefit for zone I but not zone II disease. Development of peripheral retinal vessels continued (recurs) after treatment with intravitreal bevacizumab Conventional laser therapy led to permanent destruction of the peripheral retina. Safety issues regarding Avastin in ROP not assessed.
25 Bevacizumab (Avastin) for ROP VEGF levels reduced in serum following VEGF intravitreal injection Neurodevelopmental Outcomes Following Bevacizumab Injections for Retinopathy of Prematurity. Pediatrics Apr;137(4). pii: e doi: /peds Epub 2016 Mar 17. Preterm infants treated with bevacizumab versus laser had higher (3.1x) odds of severe neurodevelopmental disabilities.
26 Current Therapy of ROP at INOVA Laser Treatment for Zone 2 ROP Zone II, stage 2-3 with plus disease Avastin for ROP in Zone 1 Zone I, any stage with plus disease Zone I, stage 3 without plus disease Rescue therapy with laser if ROP recurs following avastin treatment
27 Vision Screening
28 Vision Screening Emerging technologies Instrument based visual screening Photo screening Autorefraction Birefringent retinal screening
29 Age Tests Referral Criteria Comments Newborn to 12 months 12 to 36 months 36 months to 5 years 5 years and older* Ocular history Vision assessment External inspection of the eyes and lids Ocular motility assessment Pupil examination Related Red reflex examination Ocular history Vision assessment External inspection of the eyes and lids Ocular motility assessment Pupil examination Red reflex examination Visual acuity testing Objective screening device photoscreening Ophthalmoscopy Ocular History Vision assessment External inspection of the eyes and lids Ocular motility assessment Pupil examination Red reflex examination Visual acuity testing (preferred) or photoscreening Ophthalmoscopy Ocular history Vision assessment External inspection of the eyes and lids Ocular motility assessment *Repeat screening every 1-2 years after Pupil examination age 5. Red reflex examination Visual acuity testing Ophthalmoscopy Refer infants who do not track well after 3 months of age. Refer infants with an abnormal red reflex or history of retinoblastoma in a parent or sibling. Refer infants with strabismus Refer infants with chronic tearing or discharge. Refer children who fail photoscreening. Visual acuity thresholds Ages months: Must correctly identify the majority of the optotypes on the 20/50 line to pass. Ages months: Must correctly identify the majority of the optotypes on the 20/40 line to pass. Refer children who fail photoscreening. Refer children who cannot read at least 20/32 with either eye. Must be able to identify the majority of the optotypes on the 20/32 line. Refer children not reading at grade level.
30 Why screen? Amblyopia 2-4% of children Etiology Unequal refractive error Strabismus Less common Cataract, corneal abnormalities, ptosis, etc
31 Vision screening Visual acuity testing in office difficult Children less than 3 years Developmental delays Important to detect amblyopia early Assess amblyopia risk factors
32 Amblyopia risk factors Strabismus Astigmatism Unequal refractive errors High hyperopia (bilateral) High myopia (bilateral) Media opacities
33 Instrument based vision screening AAPOS guidelines for referral for photoscreening should have a high specificity and sensitivity Depending on age Astigmatism > diopters Hyperopia > diopters Myopia > diopters Inter-eye difference (anisometropia) > diopters Media opacity greater than 1mm Strabismus (greater than 8 prism diopters)
34 Photoscreening devices Plusoptix Measures pupil size Corneal reflexes Refraction 92% sensitivity 88% specificity
35 Photoscreening devices Spot vision screener Similar feel to camera Refraction Pupil size Automated computer analysis
36 Photoscreening devices iscreen Mobile apps GoCheck Kids No upfront costs to download app In app pricing model Similar to other devices in accuracy
37 Retinal Scanning Rebiscan Even minimal amblyopia results in microstrabismus Measures exact foveal fixation using retinal birefringence and laser scanning Very high sensitivity and specificity Recently obtained FDA approval Not yet commercially available
38 Rebiscan
39 Rebiscan
40 Genetics of Strabismus
41 Mis-innervation / Dysinnervation Congenital fibrosis of the extraocular muscles Types 1,2,3, and Tukel syndrome Duane syndrome Moebius syndrome Horizontal gaze palsy with progressive scoliosis Synergistic divergence
42 Mis-innervation / Dysinnervation Congenital ptosis Jaw-wink ptosis Congenital superior oblique paresis Brown syndrome
43 Mis-innervation Mechanism What happens when the nerve fails to develop The innervated muscle does not develop The opposing extraocular muscles develop unopposed and appear contractured and fibrotic
44 Congenital cranial dysinnervation disorders Known genetic abnormalities Duane syndrome CHN1 gene DURS2 locus (autosomal dominant) DURS1 locus (chromosome 8q13) Simplex cases Horizontal gaze palsy with progressive scoliosis ROBO3 gene Congenital ptosis Locus on chromosome 1p Jaw wink ptosis A patient with Duane syndrome and Marcus Gunn Jaw-wink has been reported KIF21A mutation reported in a patient with MG ptosis and CFEOM Congenital fibrosis of the extraocular muscles
45 Duane syndrome SALL4- related disorders Okihiro, Duane radial ray, acro-renal-ocular syndrome, IVAC syndrome Unilateral or bilateral Duane syndrome with radial ray abnormalities SALL1-related disorders Duane syndrome and renal anal, limb and ear deformities HoXA1 related syndromes Duane syndrome and bilateral senorineural hearing loss and craniofacial maldevelopment Wildervank syndrome Duane syndrome, deafness, Klippel-Feil anomaly Goldenhar syndrome Hemifacial microsomia. Oculoauriculovertebral, Duane syndrome
46 Duane syndrome What happens when the nerve fails to develop In Duane syndrome the 6 th nerve nucleus is typically absent However, a branch of the 3 rd nerve innervates the lateral rectus As a result the lateral rectus develops as a normal muscle, but just contracts at the wrong time
47 Unusual associations
48 Duane with severe leash?
49 Duane with severe leash? (or SR mis-innervation)
50 Congenital ptosis Congenital ptosis Genetically identified abnormality (1p) PTOS1 locus Often associated with other syndromes or abnormalities of the EOMs Unilateral, bilateral, or asymmetric Often a family history
51 Congenital ptosis
52 Unusual associations Left ptosis with Left infraduction deficit
53 Marcus Gunn jaw wink ptosis What happens when the nerve fails to develop Marcus-Gunn Jaw-wink ptosis The nerve to the levator palpebrae superioris fails to develop Unlike congenital ptosis, the levator muscle appears fairly normal because it is innervated a branch of the trigeminal nerve (usually the branch to the lateral pterygoid muscle) Rare familial cases have been reported KIF21A mutation reported in a patient with MG ptosis and CFEOM
54 Marcus Gunn jaw wink ptosis
55 What about congenital superior oblique paresis MRI evidence of hypoplastic development or absence of the 4th nerve/nucleus Hypoplasia of the SO muscle Occasionally familial
56 Congenital superior oblique paresis Left so paresis mom Right SO paresis in daughter
57 Bilateral Brown syndrome
58 Left Duane syndrome
59 Left Duane syndrome
60 Unusual associations
61 Fresnel prism Film used to correct double vision Kind of new
62 Fresnel prism
63 Fresnel prism
64 Thank You
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