It Is Only Rare Until It Is in Your Chair

6/11/2021

What do do: The Rare in the OD Chair

Dr. Chad Morgan Raleigh NC

Disclosures

• Paid Consultant/Lecturer -Synergeyes -Alcon Clinical Case Contributor -Art Optical Medical Science Liaison -Dompe

1 6/11/2021

The Rare in the OD Chair: Objective

Increase awareness of rare ocular Increase awareness of the possibility Increase management skills for rare disease of rare disease in your exam disease when found in your chair

Recognize the Rare #1: 2018

• 9/24/2018 • 57yof pt was last seen March 2018, has rx gls for distance and rx readers updated at last exam, states that distance and near is blurry with gls and contacts, contacts are really uncomfortable after 2hrs and has to take them out, states that she thinks her eyes might be dry too, a1c: 6.8 bsl: 145(this am). Pt uses alcon re-wetting drops, uses every hr when contacts are in otherwise uses as needed. • Prolia, atorvastatin, clonipen, Lyrica • +0.25-1.25x092 to 20/80- OD plano-0.75x100 to 20/60-

2 6/11/2021

Walk in Train Wreck Alert

What I Really See

3 6/11/2021

Recognize the Rare #1

• The Plan:Given the substantial change in refraction, an updated Rx was not given today. Pt ed on need to gain control of surface before prescribing. Good view of central lens shows no evidence of a cataract that would be causing the decrease in vision. Pt last dilated diabetic exam at Duke all WNL concerning posterior pole. 90 D used. Normal macular health noted given reduced acuity ACUITY REDUCTION FROM OCULAR SURFACE DISEASE • Pt has severe dry eye with 3-4+ SPK OS>OD with conjunctival hyperemia. Mild pannus noted inferior OS Pt ed on possible systemic involvement given arthritis diagnosis and management. Pt reports no other area of dryness on body. Ed on unlikeliness of acute condition given the dramatic dropout of meibomian glands. The patient presented today for a ctl check and rx check. We turned this into a medical office visit and the patient appreciates the attentiveness to detail. The TBUT is 1-2 seconds OU. Permanent plug procedure discussed and performed successfully. Rx sent for lotemax taper with a xiidra Rx. Ed on T-Cell component of dry eye and benefit of xiidra given autoimmune condition. PT ED ON NEED FOR LONG TERM THERAPY THAT MAY INCLUDE SCLERAL LENSES. Ed on PROKERA PLACEMENT AS POSSIBILITY AS WELL BASED ON RESPONSE TO TOPICAL THERAPY. DISCUSSION OF LIPIFLOW WILL BE HAD AT THE NEXT VISIT AS WELL. OK to RTC 4-6 weeks. • Quick Scleral lens evaluation determines vision corrects to 20/25 • Rx Lotemax and Xiidra

Recognize the Rare #1 2018

• October 22, 2018 • I last saw the patient 4 weeks ago. She has no other complaints today. Eyes feel okay, has been using lotemax and xiidra as directed, didn't go to knightdale for a lipiflow. Hasn't been wearing her contacts. • OD: +0.75-1.75x090/+2.25 to 20/25 (sc 20/40) • OS: -0.25-1.25x101/+2.25 to 20/25 (sc 20/40)

4 6/11/2021

Results of Visit

• lipiflow at some point in next 2-3 months • 1.) severe pannus OS>OD that is not within the visual axis. Pannus from long term consequences of dry eye. OS FL pattern resembles that of Map-Dot Dystrophy. To monitor in future for any change in FL patter. Consider External photography in future when available. • 2.) Dry Eye / KCS Pt is perceptually 80 to 90 percent better. Pt has clear central cornea OU with a continued reduced TBUT at 5 seconds which is up from 1-2 seconds. The patient is to continue xiidra for the foreseeable future. To taper lotemax bid x 1 week and then qday until next seen. Pt ed on need for continued aggressive treatment of Dry Eye Disease in future as well. UNDERSTANDS THAT SHE WILL NEED TO COME OFF LOTEMAX TO PREVENT LONG TERM COMPLICATIONS. UNDERSTANDS THAT SHE WILL NEED LIPIFLOW TREATMENT IN THE FUTURE TO MAINTAIN CURRENT STATE. 3.) Spec Rx given today. Pt ed on need for up to date lenses as alternative to medically necessary contact lenses in the future. eval once insurance change known. spec rx given today • 4.)Pt understandably frustrated that condition had not been picked up on by the Ophthalmologists that she sees annually for her Diabetic exam. I did inform her that this condition is not acute and that it has been developing over a long period of time when asked by patient.

Skip forward

• 11/6 to 11/20 to 11/29/2018 • The patient did not adapt to monovision in scleral lenses. Though seeing 20/20 distance and near. Single vision computer Rx provided of +1.50 OD and +0.25 OS. • The evaluation of Dry Eye and corneal dystrophy in the presence of a scleral lens today with dispense. Pt reports comfort and the feeling of “water” on her eyes. • The patient was ed on masking effect of scleral lens and the continued need to treat the condition. Continue Xiidra and report for Lipiflow

5 6/11/2021

• Pt doing very well using scleral lens as treatment of SYMPTOMS ONLY for dry eye. • Pt responding very well with Xiidra. • Ed on perceptual difference between spec Rx and Was that all contact lens vision given degree of dryness OU. • Check overall rx power in 2-3 months once the that Rare? surface is known to be fully healed 11/29/2018 • Pt is surprisingly sensitive to imbalance in vision. Rx for computer only single vision • Case series study shows healing of epithelial defect • 5 with scleral lens only. 3 with scleral + cipro +celluvisc. • All epithelial defects healed

Khan M, Manuel K, Vegas B, Yadav S, Hemmati R, Al-Mohtesab Z. Case series: extended wear of rigid gas permeable scleral contact lenses for the treatment of persistent corneal epithelial defects. Cont Lens Anterior Eye. 2019;42(1):117-122.

Patient is having trouble reading up close. Computer is good

Recognize the Patient very particular with Rare #1: vision 1/2/2019

Lined bifocal

6 6/11/2021

Recognize the Rare #1 1/16/19

• You are right… Still not 2-3 months. • Chief Complaint: • Pt still having problems with progressives. Received prescription for specs at recent specialty exam. The specialist wrote a different Rx • Results: • Start at retina specialist refraction. Subjective change towards old refraction. Exact OS refraction. Additionally specialist refraction shows 20/20. Pt has not seen 20/20 in both eyes without aide of scleral lens. • OD: Plano-1.75x090 20/25- • OS: -0.25-1.00x100 20/25--

June 28, 2019

• That’s right still not 2-3 months. • But she does do LipiFlow

7 6/11/2021

Same Case… 9/4/2019

• Presents for Lipiflow F/U Still feels vision in specs and contact lenses are blurry. Would like this checked. Compliant with Xiidra • Results: 20/20 vision corrected with exact refraction • The Notes: • Scleral system working well. Cornea shows resolution. I am not changing Rx at this point given the system that is successfully working. RTC 6 months for exam

Recognize the Rare #1: 12/12/2019

• Progressives are not working. Goes to Duke for retina check. A1C 7.6 and is going in January. Wears contacts 8-10 hours per day. Thinking about bifocal this time. • LipiFlow, DFE for Diabetic Exam, Dry Eye • Pt is now correcting to 20/20. OD and OS Care separately. • Comprehensive Care • Cornea shows healing with current system: scleral, xiidra and post Lipiflow. • Pt requests second LipiFlow treatment. • Decides she would like everything under one roof: • RTC for LipiFlow, DFE, Fundus.

8 6/11/2021

Recognize the Rare #1: LipiFlow #2 1/18/2020

• Things have changed in my office. I now actively check for corneal sensitivity on any ocular surface that shows signs without symptoms. • Zero • Zero corneal sensitivity • LipiFlow Performed • AND Rx for Oxervate • RTC 3-4 weeks after starting oxervate for lipiflow f/u and oxervate f/u

Recognize the Rare#1 : 02/20/20

• Returns for DFE. Has not started Oxervate • My technician has already told the patient to blink more while not in contact lenses • DM: Normal and patient is pleased that she does not need to see specialist. Informed her we would send her to retina prn in future • Neurotrophic Keratoconjunctivitis: The conversation.

9 6/11/2021

Recognize the Rare #1: 4/20/2020

• Yes… She is essential • Pain and tearing in both eyes. Has been on oxervate for 4 weeks. • Pt reports improvement in vision when utilizing medication. Pt was able to cry tears for the first time in years recently with movie. • Pt ed on improvement in vision d/t increase in tear production with improvement in condition • Walk through REFRACTION IN 4 WEEKS

Recognize the Rare #1: 6/12/2020

• Pt reports back: • Unable to tolerate drops for full treatment. Stopped 4 days short d/t excessive burning • BSL in control • Patient cannot wear contacts anymore because they feel too strong • Patient cannot wear glasses anymore. • Patient has stopped xiidra and is unsure if this is necessary • Vision • Sc distance: 20/25 sc near 20/25 • OD +1.75-2.25x085 20/25 • OS +1.00-2.50x100 20/25 • And it was easy

10 6/11/2021

• Pt is doing exceptionally well post oxervate. • Pt vision continues to shift in the positive direction and pt tear film is very healthy • Pt tolerates natural vision better than trial She is happy. framed corrected vision. Understands I will cut I am happy. some cyl for spectacle rx • RTC 1-2 months to recheck stability • 2 months later. Rx is the same. Pt no longer needs ctl system. Has not worn correction aside from +1.00 readers for 3 months.

Rare to the Chair Case #2

• Pt has rare disease. Only 8 people in the world have it. Pt most recent exam with pediatric specialist Dr. Jeffrey Board. Pt has Seen multiple ECPs. Is here because he has an eye infection and his mom goes here. We were able to work him in and the mom would like for us to communicate all findings as needed to his known healthcare team.

11 6/11/2021

The Case 11/23/2019

• Pt wakes up in morning with crust and red eyes. • Eyes are not painful or itchy but they remain red throughout the day • Eyes are not matted shut, but there is obvious drainage surround hig eyes • Used visine for about a week • Problem has been going on for a month and a half

• Additionally: pt is in fraternity at NC State and is off for fall break

Rare to Chair #1: Rare?

• We treat it and I suspect it: Topical and systemically… • But what is rare? • The patient has h/o rare genetic disease • Per mother and history in notes, refraction has never been able to achieve 20/20 vision. Today 20/40 blur OD and OS. • Pt is seen by various specialties per our records regarding additional scans that may be performed to determine the reason that the refraction is inadequate: Refraction is essentially plano with 1 BO prism

12 6/11/2021

Rare to Chair #2 OCT Macula:

• Finished z pach and eye drops. Completely resolved

Rare to Chair #2: OCT ONH

13 6/11/2021

Rare to Chair #2: Rare?

• Topography: When reviewing the corneal map the patient has flat corneas more consistent with readings that are typically found in patients that have already had LAsIK surgery. Additionally there is general irregularity on the surface within the visual axis that will not allow for refraction to correct vision through conventional means of specs.

• Given the irregular surface, the refraction can be better corrected through the use of specialty contact lenses on the ocular surface that mask the irregularities of the cornea: scleral lenses. I am scheduling the patient back for a follow up visit and if the conjunctivitis has cleared will attempt a refraction on the surface through the scleral lens. • I will perform an OCT at his follow up visit to better understand the macular health.

Rare to Chair #2: Pach

14 6/11/2021

Rare to Chair #2: 12/9/2019

• At last visit it was determined that the patient has highly irregular cornea. The cornea is flat with irregularity. Today, given that the infection is no longer present, we pursued medically necessary contact lenses that vault the irregular surface and mask the irregularity by allowing a “tear lake” to fill in the irregularities. • The cornea is small at 10.2 mm for horizontal and 10.0mm for vertical diameter • Given the small cornea the scleral lens is positioning itself inferior. There is excessive limbal clearance. I will be steepening the BC from an 8.4 to an 8.0. This will both decrease the limbal vault and should better center the lens. • Manually pushed the lens and OZ into more centered position and patient is able to see 20/20 immediately. • The previous best correction is 20/40. Pt correction has him at 3 lines or better with contact lens system

Rare to Chair #2: 12/31/2019

• OD Synergeyes VS 2800 36 42 bc 8.0 diam 16.0 -2.75 sphere: 20/20-1 • OS Synergeyes VS 2900 36 42 bc 8.0 diam 16.0 -2.25 sphere: 20/20-1

15 6/11/2021

Rare to Chair #2: 12/19/2019 to today

• -Fog? • -Depositing? • -Removal? • -Classroom impact? • -Is he wearing them? NO

Sialuria

• Definition: Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcystic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies.

• Sialuria, French type: Genetic and Rare Disease Information Center (GARD)-an NCATS Program. Orphanet.inserm Orpha number 3166

16 6/11/2021

Sialuria Description

• Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcystic anemia). They develop a somewhat flat face and distinctive looking facial features that are described as “coarse” • Young children with sialuria tend to have frequen upper respiratory infections and episodes of dehydration and gastroenteritis. Older children may have seizures and learning difficulties. In some affected children, intellectual development is nearly normal • Likely some adults with sialuria never come to medical attention

Sialuria Frequency And Cause

• Fewer than 10 people worldwide have been diagnosed • Difficult to diagnose d/t variable features

• Mutation in the GNE gene. This gene is involved in chemical pathways that produce sialic acid, which is a simple sugar that attaches to the ends of mor ecomplex molecules on the surface of cells. The modification of these molecules influence a wide variety of cellular functions. • The mutation of the gene shuts off a feedback mechanism that shuts off the production of sialic acid. Therefore there is an increased amount in cells, that is processed and then excreted in urine. • Inheritance • Autosomal dominant pattern. Note that there has been no known cases in people with no known history of the disorder in the family. May result from new mutations in the gene.

17 6/11/2021

• Laboratory Abnormalities: • Head And Neck Ears: elevated urinary free sialic acid (n- low-set ears Sialuria acetylneuraminic acid) elevated fibroblast free sialic acid Features • Chest Breasts: hypoplastic nipples • Skeletal Spine: scoliosis • Skeletal Feet: 2-3 toe syndactyly • Head And Neck Face: large halluces coarse facial features prominent forehead long, smooth philtrum • Growth Other: normal growth

• Abdomen Liver: hepatomegaly • Chest External Features: small chest

• Neurologic Central Nervous System: seizures • Skin Nails Hair Hair: developmental delay attention deficit disorder low posterior hairline Sialuria generalized hirsutism

• Respiratory: Features sleep apnea

• Abdomen Spleen: • Abdomen External Features: splenomegaly protuberant abdomen

• Head And Neck Eyes: hypertelorism synophrys periorbital fullness epicanthal folds • Head And Neck Nose: thin upper lip Microcornea? broad nasal bridge Microphthalmos? high-arched palate Congenital Flat Cornea?

• Genitourinary External Genitalia Male: inguinal hernias

18 6/11/2021

Challenging

Making a Communication Diagnosis: No Medical history, symptoms, physical exam and lab test results in order to make a diagnosis

Genetic Testing http://www.ncbi.nlm.nih.gov/g Registry (GTR) tr/conditions/C0342853

Rare to Chair #3: 4/10/19

• Referral for irregular astigmatism for RGP fitting • Noteworthy: Wet refraction results with 2.0 diopters more astigmatism than dry. Pt kicks out all of the dry astigmatism in trial frame. • Topography was performed • 14 yom • Noteworthy: • -Fhx Aunt has vision impairment of unknown etiology • -Concerta, cetirizine, montelukast

19 6/11/2021

Rare to Chair #3: Visit 1

• OD: -0.50-2.25x152 to 20/80 with PH 20/50 • OS: -0.50-2.75x045 to 20/60- with PH to 20/40-

The Walk in the Door Presentation

20 6/11/2021

Rare to Chair #3: Visit 1

• Impression • 1-Microphthalmos: Both Eyes Mild • 2-Astigmatism, irregular: both eyes, moderately severe • 3-Abnormal retinal correspondence: Very symptomatic • 4-Anisocoria • 5-Keratoconus (form fruste)? • 6-Diplopia • 7-Allergic Conjunctivitis • 8-Eczematous Dermatitis

The Notes…. Visit 1

• 1.)Microoophthalmia OU: Pt mother ed on congenital birth defect that can be associated with other ocular abnormalities as well as systemic conditions. The pupils are decentered and “peaked”. • 2.)Anisocoria: Good overall response OU with both consensual and nonconsensual response. No RAPD noted. Ed on congenital appearance • 3.) Abnormal retinal correspondence with eccentric fixation: Overall corrected acuities obtained in scleral lenses today with blurred interpretation of 20/25- OD and 20/30- OS. Unknown response to visual therapy that will be incorporated with corrected acuities

21 6/11/2021

I had not done this in awhile…

The Notes continued…Visit 1

• 4.) Amblyopia: Pt mother and father ed on age of patient and unknown expectation of further improvement with correction • 5.) Keratoconus vs irregular congenital astigmatism: Initial topographies gained and will be monitored for any progression that can further differentiate whether the cornea is irregularly shaped from congenital defect vs possible keratoconus • 6.) Refraction: Scleral lenses placed on eyes today as well as hybrid lenses. The scleral lens fit inferior and shifted the optical zone. I placed hybrid lenses on with varying skirt curves and there was no centration.

22 6/11/2021

The Notes continued… Visit 1

• The patient is visually disabled without the aid of MNCL that will serve as medical devices to promote various aspects of the patient’s activities and lifestyles. • I currently do NOT recommend driving exercises in driver’s ed without the aid of contact lenses. • I also recommend that the patient have a teaching aide in the classroom that can read and aide in learning where vision may be an obstacle. This would include special test taking environments for any test administered including all standardized testing.

The Notes • Pt performing very well in scleral lens after adjustment of BC and diameter. 20/20- OU and Continued… 20/25– independently Visit 3

23 6/11/2021

The Notes Continued…Visit 5

• Pt reports back with diplopia. • Rx specs on top of contact lenses with 1.5 BD OD and 1.5 BU OS • Submitting for approval for EOM surgery at Duke as alternate option for constant vertical dysphoria. • Recommend separate consult with pediatric ophthalmologist. Notes sent regarding abnormal pupil size etc.

The Notes Continued… Visit 6

• We continue to work on clouding/impingement etc • But, patient did go to pediatric opthalmologist. I have correspondence without mention of pupil abnormalities. • Pt was dilated before the office visit with the doctor, mother did not remember doctor name. • Personal cell given to mother to give to physician so that direct contact can be made.

24 6/11/2021

Clinic Notes… Visit 7, 8, 9 and 10

CLARE from using RTC 6 months incorrect rewetting (June 2019) drop then GPC

Rare to Chair #3: August 7, 2019

• Pt has gone to PCP and has eye infection. PCP rxed vigamox, told patient to throw away contact lenses and to report to ECP. Starts school Aug 26th and needs back up pair of glasses

• -Plan : DON’T THROW CONTACTS AWAY. Bump Vigamox to qid. • Pt no longer needs specs on top of contact lenses. Double vision has improved.

25 6/11/2021

Rare to Chair #3: Now

• Acuvue 1 day oasys astigmatism to 20/25 OD and OS • Then …

Google Review of Microphthalmia

26 6/11/2021

Microphthalmia Definition

• Microphthalmia is defined as an abnormally small eye or cornea (microcornea) (axial length <16 mm at birth and <19 mm at 12 months of age; and corneal diameter <10 mm at birth).

• Shah SP, Taylor AE, Sowden JC, et al; Surveillance of Eye Anomalies (SEA-UK) Special Interest Group. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol Vis Sci. 2011;52(1):558-564.

• Incidence • 1.5 to 19 per 10,000 births • Etiology • Disturbance to morphogenetic pathway that controls eye development Microphthalmia • Primary genetic defect • Most autosomal dominant Review • Less frequent autosomal recessive and x linked • External gestation factors • Gestational-acquired Infections • Maternal ag over 40, multiple births • Low birth weight, low gestational age • Drug use

27 6/11/2021

Microphthalmia Review

• Management • -Best through shared care approach: ocular, pediatric services and specialist centre • -Socket Expansion • -Best if intervention early for eyes <16mm • -Clear shapes for children that exhibit good VEP • -Socket expanders and hydrophyllic expanders • -Prosthesis

Microphthalmia Review

• Long Term Management • Prosthesis review qyear • Angle closure glaucoma • Education on increased risk for RD in children with Coloboma • Glasses • Refractive error • Protection • Providing cosmetic improvement

28 6/11/2021

• Definition: The displacement of one or both pupils from the centre in any direction, most commonly nasally and either up or down. • Etiology • Typically associated with dominant or recessively inherited anterior chamber abnormalities • Inherited ectopia lentis et pupillae syndrome • Congenital microcoria • Urbach-Wiethe disease Congenital • Chromosomal anomalies • Associations: Corectopia • High myopia • Ptosis • Ophthalmoplegia • Strabisumus • Conclusion • Case requires full ophthalmic investigation, to differentiate congenital or neurological corectopia from purely ocular disorders

Congenital Corectopia

From the Case study Our patient

29 6/11/2021