DISCLOSURES

VISUAL MANIFESTATIONS OF • No financial disclosures EHLERS-DANLOS SYNDROME

Christy Alfano, OD Pediatric and Vision Therapy Rehabilitation Resident Northwest Eyecare Professionals | Clackamas, OR

OBJECTIVES

• Provide an overview of Ehlers-Danlos Syndrome OVERVIEW OF • Overview of common ocular findings associated with Ehlers-Danlos Syndrome EHLERS-DANLOS SYNDROME • Structural ocular findings • Functional visual findings • Review a case of a symptomatic Ehlers-Danlos patient

EHLERS-DANLOS SYNDROME (EDS) EHLERS-DANLOS SYNDROME (EDS)

• Etiology • Inheritance • Inherited collagen disorder • Majority of cases are autosomal dominant • Wide array of types and expressions • Rare forms are autosomal recessive • Pathophysiology • Mutations disrupt collagen synthesis and/or processing • Prognosis • Collagen makes up 80% of the eye • Variable

• Prevalence • Does not typically affect hypermobile or classic types of EDS • 1 in 2,500 to 1 in 5,000 • Vascular EDS patients have a median lifespan of 48 TYPES TYPES OF EDS Classifications OF EDS Type I and II Classical Type III Hypermobile • 13 different types of Ehlers- Danlos Syndrome Type IV Vascular • Hypermobile EDS – most common type Type VI Kyphoscoliosis Type VIIA and VIIB Arthrochalasia Type VIIC Dermatosparaxis

COMMON SYSTEMIC FINDINGS OF EDS HOW EHLERS-DANLOS IS DIAGNOSED

• Joint hypermobility • 2017 International Diagnostic Criteria • Skin hyperextensibility • A list of major and minor criteria for each of the 13 types • Fragile tissues • Lists clinical signs and symptoms for each type • Chronic joint pain • Most types will need a confirmation with genetic testing • Muscle fatigue • Medical doctors (primary care physicians) are able to diagnosis EDS • • Bruises easily Many cases may need a referral to a geneticist • Heart valve problems

STRUCTURAL OCULAR FINDINGS WITH EHLERS-DANLOS SYNDROME

• Dry Eye OCULAR FINDINGS WITH • Blue Sclera EHLERS-DANLOS SYNDROME • Keratoconus • Lens subluxation • Myopia • Retinal Detachment • Angioid streaks • Glaucoma • Strabismus STRUCTURAL OCULAR FINDINGS WITH DRY EYE EHLERS-DANLOS SYNDROME

• Dry Eye • Blue Sclera • Large percentage of EDS patients experience dry eyes • Keratoconus • Due to inadequate closure of eyelids • Lens subluxation • Exposure keratitis • Myopia • Symptoms worse in the morning • Retinal Detachment • May experience fluctuating vision and light sensitivity • Angioid streaks • Glaucoma • Strabismus

KERATOCONUS MYOPIA

• Due to loss of collagen integrity of the cornea • Due to loss of collagen integrity of the sclera • Clinical Findings: • Tends to progress quickly • Paracentral corneal thinning • Able to correct with glasses or contact lenses • Scissor reflex with retinoscopy • Be cautious with refractive surgery • Steepening on topography • One study: 23% of EDS patients had complications post- • Vogt striae refractive surgery • Complications due to healing of the cornea

RETINAL DETACHMENTS RETINAL DETACHMENTS

• Weakened Bruch’s Membrane • Weakened Bruch’s Membrane • Angioid streaks • Angioid streaks • Irregular radiations in the peripapillary region • Irregular radiations in the peripapillary region • Elongation of the eye increases risk • Elongation of the eye increases risk STRABISMUS STRABISMUS

• Small misalignments • Esotropia • Patient may report occasional diplopia and eye fatigue from • Potential causes of CN 6 palsies in EDS patients: keeping proper alignment • Cavernous Sinus Fistula • Exotropia • Spontaneous carotid-cavernous fistula is a well known • May be due to cranial nerve 3 palsy complication in vascular-type EDS patients • Sudden onset diplopia • Cranial nerve 6 travels through the cavernous sinus • Monitor for ptosis and pupillary involvement • Idiopathic Intracranial Hypertension • Not well researched in association to EDS • Increased pressure on nerve as it stretches over the petrous ridge of the temporal bone

FUNCTIONAL VISUAL FINDINGS WITH SMALL STUDY IN FRANCE EHLERS-DANLOS SYNDROME

• Convergence Insufficiency • Published September 2019 • Retrospective study of 21 patients • Oculomotor Dysfunction • 17 women • Accommodative Insufficiency • 4 men • Basic esophoria or exophoria • Most frequent ophthalmological signs: • Ocular motility disorders (71.4%) • Dizziness • Convergence insufficiency (61.9%) • Blue sclera (38%) • Dry eye syndrome (33%) • High myopia (9.5%)

SMALL STUDY IN FRANCE

• Published September 2019 • Retrospective study of 21 patients CASE REPORT • 17 women • 4 men • Most frequent ophthalmological signs: • Ocular motility disorders (71.4%) • Convergence insufficiency (61.9%) • Blue sclera (38%) • Dry eye syndrome (33%) • High myopia (9.5%) CASE REPORT CASE REPORT

• 19 year old white female • Reported visual symptoms: • Referred to our clinic from her chiropractor for a binocular vision evaluation • Has experienced 2 years of constant headaches • Dizziness • Difficulty with balance and walking • Difficulty with reading • Eye fatigue • Severe light sensitivity

CASE REPORT CASE REPORT

• Onset of symptoms was 2 years ago • VAs sc: 20/20 OD, OS, OU • Symptoms happened after taking Tramadol for severe body pain • PERRL, (-) APD OD, OS • Took Tramadol for 5 weeks, then started becoming very symptomatic • Quick pupillary rebound • Later was diagnosed with Ehlers-Danlos Syndrome • EOM: full, no restrictions, no diplopia • Also diagnosed with endometriosis and postural orthostatic tachycardia • Saccades: hypometric, head movement across midline, slow to fixate syndrome (POTS) • Pursuits: multiple refixations with slight head movement across midline • At the time of the exam, was undergoing testing for Chiari malformation

CASE REPORT CASE REPORT

• NPC: 5 cm with effort, reduced with repetition, became quickly fatigued • Subjective Refraction: • Distance Vergence Ranges: • Distance cover test: orthophoria • OD: +0.25 DS OS: +0.25 DS • BO: 8/10/2 • Near cover test: 6 prism diopters esophoric • Distance Von Graefe phoria: 2 exo • BI: 16/18/6 • VOR: quickly became dizzy, horizontal VOR was more symptomatic than • Near Von Graefe phoria: 2 eso vertical • Intermittent OD suppression • Near Vergence Ranges: • BO: 8/18/6 • BI: 10/18/10 CASE REPORT CASE REPORT

• NRA: +2.00 net • Treatment and Management • PRA: -2.75 net • Glasses: • FCC: +1.25 net • Trialed prism and low plus – no improvement in symptoms • Trialed small amount of binasal occlusion – improvements in gait, able to walk straighter and more comfortable • Added FL-41-2 tint to improve light sensitivity • Recommended weekly vision therapy • Focus on oculomotor skills, balance, central-peripheral integration, accommodation, and binocularity

TAKE AWAY THANK YOU PEARLS Systemic Ocular

Joint hypermobility BV issues (CI, OMD,AI, strabismus) • Ehlers-Danlos is becoming • Email if you have any further questions or comments more prevalent • [email protected] • Large variation of types and Stretchy skin High myopia clinical findings Chronic pain Dry eyes • Many ocular findings secondary to EDS Easily bruised Keratoconus • Refer to PCP for further evaluation Muscle weakness Retinal Detachment Disclosures

The Presenter and Organizers for

“ The Dizzy Patient From a Visual Standpoint”

By Dr. Stephanie Hwang has no financial relationship with any company or The Dizzy Patient products mentioned in this presentation From a Visual Standpoint Stephanie Hwang, OD, MPH

KG

60 yo WF presents to clinic 8 months following an MVA • Ocular Health: myopia, astigmatism and presbyopia, PVD OD Visual concerns are as follows: Vertigo – when she wakes up, worsens throughout the day • Medical History: (+) concussion Dizziness and nausea Intermittent blur vision at distance and near • Medications/Vitamins: Vitamin D and B Light sensitivity, sound sensitivity • Family Ocular and Medical History: (+) Stroke - Mother, (+) DM - Mother New floater – arc shaped Difficulty with spatial recognition • Allergies: NKDA Difficulty in busy places, riding as passenger Difficulty reading – limited to 10 minutes paper, 10-15 minutes on the • Other Rehabilitation – occupational and physical therapy once a week due to computer accident, waitlist for SLP Difficulty with anything that requires cognition – filling out the TBI questionnaire

LEE 6 months ago Habitually wears PALs, Rx is 6 months old

Exam Findings

• VA cc @ Distance VA cc @ Near • Near Point Convergence  20/25 OD 20/30  Breaking: 18 cm  20/25+ OS 20/30-  Recovery: 25 cm  (+) Head spasticity • Pupils: PERRL (-) APD • Pursuits: jerky with refixation, loses fusion. Was only able to do one rotation • EOM: full/no restrictions OD, OS  (+) Visual motion hypersensitivity • CVF: Full to finger counting OD, OS • Saccades: consistent undershoots • CT cc @ Distance CT cc @ Near 10 exophoria • Visual Midline Shift: down and to the right and closer, very poor spatial  Superior: l, m. r: 4 exophoria, reported nausea awareness, shaking and dizzy with testing with tendency to fall backwards  Primary: l, m, r: 4 exophoria  Inferiorly: l, m, r: 4 exophoria Assessment and Plan

• Subjective Findings: • Diagnosis:  -1.00-1.00x107 20/20  Exophoria  Convergence insufficiency  -0.50-0.25x070 20/20  Binocular vision disorder • FCC +2.25  Dizziness and giddiness  Unspecified subjective visual disturbances - Visual Motion Hypersensitivity (VMH) and • NS: +2.50 Visual Midline Shift (VMS)  Light sensitivity • NRA/PRA: +2.00/-0.75  Post-concessional syndrome

• Von Graefe with new manifest @ D: ortho, ortho • D/c PALs until dizziness resolved. Prescribed two pairs of glasses: distance and computer/reading bifocals for work. Schedule visual processing assessment and • Von Graefe with NS @ N: 6 exo, L suppression start vision therapy working on equalizing eye movements, visual spatial awareness, proprioceptive feedback. Refer to functional neurologist for further evaluation. • Vergence Ranges:  At distance: Convergence: 6/16/3 At near: Convergence x/14/0 RTC for progress evaluation after 10 VT sessions Divergence: x/7/2 Divergence 18/22/16

Dizziness Assessment

• Balance system consists of 3 pillars: • Case History  Vestibular system • Dizziness Handicap Inventory  Visual system  Proprioceptive

• Causes:  Benign Paroxysmal Positioning Vertigo (BBPV)  Meniere’s Disease  Persistent Postural Perceptual Dizziness  Vestibular Migraines  Cervicogenic Dizziness  Visual induced dizziness/visual vertigo

Testing

• Standing pursuits and saccades  Visual Motion Hypersensitivity

• Vertical Midline Shift

• Vertical heterophoria  Von Graefe  Maddox rod

• OKN

• Walking/gait assessment Treatment Referral

• Uninasal or binasal occlusion • Audiologist – inner ear disorders such as BPPV  Scotch tape • ENT doctors – disorders and diseases of ears, nose, throat, head, and neck  Bangerter filter • Functional neurologist – brain and brain stem linked conditions • Base In prism • Chiropractor, cranialsacral, massage therapy • Vertical prism • TMJ specialist • Syntonics • Vestibular PT • Vision therapy: Seated  standing  moving  balance  Phase 1: equalizing skills of pursuit, saccade, and accommodation  Phase 2: MFBF, Biocular, stereopsis  Phase 3: high powered yoked prism

Back to KG Clinical Pearls and Take away

• 28 total sessions of vision therapy • During case history, ask about experience walking down the supermarket  Progress evaluation after 10 session of VT- aisle, walking across patterned floor, going to the movies (seeing movement  Decreased body sway during sensorimotor examination and visual midline testing over a large area), scrolling on phone, tablets or screens  Improved stamina and endurance, no breaks were needed • The power of uninasal or uninasal occlusion during a dizzy spell  Able to perform pursuits but still reported dizziness   Decreased prism in distance and computer/reading bifocals to 0.5 BU yoked and 1.0 BI making a peace sign and placing hand at bridge or nose

• 2 months with functional neurology • Have patients stand while checking pursuits and saccades  No more dizziness  Observe for any body sway or movement  Progress evaluation after another 10 sessions of VT • Observing for gait abnormalities, walking speed, and walking behavior  Removed prisms from glasses, returned to PALs • Limit hand movements when talking or excessive movement • Currently working on convergence/divergence, saccades, central/peripheral integration in VT

References

• Bronstein AMVisual vertigo syndrome: clinical and posturography findings.Journal of Neurology, Neurosurgery & Psychiatry 1995;59:472-476.

• Ciuffreda, K. J., Yadav, N. K., & Ludlam, D. P. (2017). Binasal Occlusion (BNO), Visual Motion Sensitivity (VMS), and the Visually-Evoked Potential (VEP) in mild Traumatic Brain Injury and Traumatic Brain Injury (mTBI/TBI). Brain sciences, 7(8), 98. Halmagyi GM, Cremer,PD. Assessment and treatment of dizziness.Journal of Neurology, Neurosurgery & Psychiatry 2000;68:129-134.

• Kaski, D. Neurological update: dizziness. J Neurol 267, 1864–1869 (2020).

• Powell, G., Derry-Sumner, H., Shelton, K. et al. Visually-induced dizziness is associated with sensitivity and avoidance across all senses. J Neurol 267, 2260–2271 (2020).

• Schniepp, R., Wuehr, M., Huth, S. et al. Gait characteristics of patients with phobic postural vertigo: effects of fear of falling, attention, and visual input. J Neurol 261, 738–746 (2014).

• Van Ombergen, A., Heine, L., Jillings, S., Roberts, R., Jeurissen, B., & Van Rompaey, V. et al. (2017). Altered functional brain connectivity in patients with visually induced dizziness. Neuroimage: Clinical, 14, 538-545. MANAGING AMBLOYPIA Disclosures STEP BY STEP Prashna Mistry, OD Vision Therapy and Pediatrics Resident Pacific University College of Optometry

What is Amblyopia? Classification of Amblyopia

Strabismic • Anisometropic Depth Cut off Visual Acuity • Refractive Shallow 20/25-20/32 Moderate 20/40-20/80 Isoametropic • Severe/Deep 20/100 or worse • Deprivation • 1.2% increased risk of vision loss in the sound eye Combined mechanism

Ocular Effects Amblyogenic Factors

• Common signs/symptoms: Potentially Amblyogenic Refractive Errors: • Laterality: unilateral • Reduced visual acuity Characteristics • Frequency: constant of Strabismic • Reduced stereopsis Anisometropia Isoametropia Amblyopia: • Fixation Distance: far and • Increased sensitivity to contour interaction (crowding effect) near Hyperopia >1.00D >5.00D • Abnormal spatial distortions and uncertainty • Reduced contrast sensitivity Myopia >3.00D >8.00D Astigmatism >1.50D >2.50D • Unsteady and inaccurate monocular fixation Characteristics • Physical obstruction of Deprivation • Poor oculomotor function Amblyopia: along the line of site • Inaccurate accommodative response • Suppression Management Strategy Case Discussion

Optimal • Occlusion Active Vision • Refractive Therapy Therapy • Correction •

•

Case History Examination Findings

• Entering uncorrected acuities with Snellen • • Distance VA: Near VA: • EOM: full and unrestricted OD/OS • NPC: 7/11cm; 8/15cm OD 20/30-1 20/40 • • CT: 4XP; 6XP’ • OS 20/125-1 20/200 • Stereo: 100” lateral disparity

• OU 20/40 20/63-2 • Pupils: ERRL (-) APD OD/OS

Anisometropic Refractive Refraction and DFE Amblyopia, OS Prescribed the following for full-time wear: • OD: +2.00 DS • OS: +6.00 -0.50 x 170 • Dilated with 1% cyclopentolate and 1% tropicamide • Ocular Health Examination: anterior and posterior segment unremarkable Assessment & Plan Type Refraction Findings Distance VA’s

Dry Autorefractor OD: +2.25 -0.25 x 126 OS: +6.50 -0.75 x 153 RTC in 1 week for VT Evaluation. Wet Autorefractor OD: +3.75DS OS: +7.50 -0.50 x 167 RTC in 6-8 weeks for follow-up on new Wet Retinoscopy OD: +3.00 -0.25 x 180 OD: 20/30-2 prescription and amblyopia. OS: +7.00 -0.75 x 170 OS: 20/100+1 Vision Therapy Evaluation Amblyopia and Reading

Laterality/Directionality:

• Piaget: average • Gardner: • Execution: 52nd percentile • Children with strabismic and/or • Recognition: 15th percentile anisometropic amblyopia vs non- Oculomotor: amblyopes Conclusion: Referral to a reading specialist! • DEM: • Compared reading rates, # of Children with amblyopia read slower • Vertical – RS 119 seconds, < 1% and have more forward and regressive • Horizontal – unreliable, 30+ errors forward and regressive saccades, and fixation duration saccades during reading. Dyslexia/Language Processing:

• TOWRE • Sight word efficiency: 8th percentile • Phonemic decoding efficiency: 25th percentile • DDT – unable to perform

Management Strategy Based on cycloplegic refraction using cyclopentolate

Prescribing Prescribe full amount of anisometropia, astigmatism, and Optimal Occlusion Active Vision Pearls myopia Refractive Therapy Therapy Correction

Cut Rx symmetrically between eyes

Optimal Refractive Correction Follow Up #1

Compliance ~75% with Rx

Visual Acuity OD: 20/20-2 OS: 20/60-1

Type of Average lines of Resolution Plateau Stereopsis (-) RDS, (-) LD Amblyopia VA improvement Follow-Up #1 MEM OD: +0.75 • Amblyopia Treatment Studies Anisometropia @ 18 weeks: 2.9 27% ~15 weeks OS: +1.00 Strabismus @ 18 weeks: 3.2 32% ~25 weeks • Children 3 to <7 y.o Over-Retinoscopy OD: +0.25 DS • Moderate to severe amblyopia Combined @ 18 weeks: 2.3 28% OS: +0.50 DS • Previously untreated Mechanism (Strab + Aniso) Plan Introduce daily patching OD x 2 hours day Isoametropia @ 52 weeks: 20/25 75% ~52 weeks

CONCLUSION: REFRACTIVE CORRECTION ALONE CAN RESOLVE AMBLYOPIA Management Strategy Occlusion Therapy Approach

• • Optimal Active • • Refractive Occlusion Vision • Correction Therapy Therapy • • • • • •

How Long Do You Occlude? Summary of Follow-Ups

• Poor compliance with direct, total patching OD x 2 hours daily • Updated Rx in attempts to improve visual acuity and resolve PEDIG ATS STUDIES CONCLUSIONS: amblyopia - Moderate Amblyopia ages 10 and younger - • Additional +0.75DS hyperopia on over-refraction improved acuity 20/20-1 OS in office with loose lens • 6 hours of daily patching as effective as daily atropine • No changes in visual acuities with Rx update • 2 hours of daily patching is as effective as 6 hours of daily patching • Weekend atropine is as effective as daily atropine • VA’s stabilized to 20/20-1 OD, and 20/50+1 OS with Rx alone • Full time Bangerter foils are as effective as 2 hours of daily patching • Stereo improved to 250” RDS and 40” LD - Severe Amblyopia ages 7 and younger – • Switched to full time Bangerter Foil, OD • 6 hours of daily patching as effective as full-time daily patching • Educated on contact lenses to eliminate aniseikonia

Where are we today? Management Strategy

• FT Bangerter foil, OD • 100% compliance with occlusion therapy • Visual Acuity: OD: 20/20-2 ; OS: 20/50 single line; 20/40 single letter Optimal Occlusion • Stereopsis: 500” RDS, 40” LD Refractive Active Vision Therapy • Scheduled to initiate vision therapy to improve visual acuity and Correction Therapy binocular function When Should You Refer For Vision What About Regression? Therapy?

• • • • • • • • • • • • •

References Clinical Pearls

• Chen, A. M., & Cotter, S. A. (2016). The Amblyopia Treatment Studies - Implications for Clinical Practice. Advances in Ophthalmology and Optometry, 1(1), 287-305. doi:10.1016/j.yaoo.2016.03.007 Compliance is KEY! • American Optometric Association (1994). The AOA Clinical Practice Guideline: Care of the Patient with Amblyopia. • Tison, K., & Nicklas, A. (2017, October 15). Managing amblyopia: Can vision therapy cut it? Retrieved April 26, 2021, from https://www.reviewofoptometry.com/article/managing-amblyopia-can-vision-therapy-cut-it Close follow-up • Chen, Y., He, Z., Mao, Y., Chen, H., Zhou, J., & Hess, R. F. (2019). Patching and suppression in amblyopia: One mechanism or two? Frontiers in Neuroscience, 13. doi:10.3389/fnins.2019.01364 Don’t try to push everything at once • Caloroso, Elizabeth E., et al. Clinical Management of Strabismus. Butterworth-Heinemann, 1993. • Kelly, K. R., Jost, R. M., De La Cruz, A., & Birch, E. E. (2015). Amblyopic children read more slowly than controls under natural, Monitor binocular function, not only monocular Binocular reading conditions. Journal of American Association for Pediatric Ophthalmology and Strabismus, 19(6), 515-520. function doi:10.1016/j.jaapos.2015.09.002 • Evans E. Refraction in children using the R x 1 autorefractor. Br J Orthopt 1984; 41:46-52 Know when to refer for vision therapy

References THANK YOU!

• Helveston EM, Pachtman MA, Cadera W, Ellis FD, Emmerson M, Weber JC. Clinical Evaluation of the Nidek AR auto refractor. J Pediatr Opthalmol Strabismus 1984;21:227-230 • Hess, R. F., & Thompson, B. (2015). Amblyopia and the binocular approach to its therapy. Vision Research, 114, 4-16. doi:https://doi.org/10.1016/j.visres.2015.02.009. • Holmes, J. M., Manny, R. E., Lazar, E. L., Birch, E. E., Kelly, K. R., Summers, A. I., . . . Wallace, D. K. (2019). A randomized trial of binocular dig rush game treatment for amblyopia in children aged 7 to 12 years. Ophthalmology,126(3), 456-466. doi:10.1016/j.ophtha.2018.10.032 • Erickson, G., et al. “Amblyopia Treatment” Diagnosis and Management of Strabismus. 2020. Forest Grove, Oregon.

• Yuan, Y., Zhu, C., Wang, P., Hu, X., Yao, W., Huang, X., & Ke, B. (2021). Alternative flicker Glass: A New Anti-suppression Any further questions, please feel free to email me at: approach to the treatment of Anisometropic Amblyopia. Ophthalmic Research. doi:10.1159/000515599 [email protected]