DIFFERENTIAL DIAGNOSIS s

Masqueraders of Glaucoma

BY MARK S. DIKOPF, MD; PETE SETABUTR, MD; THASARAT S. VAJARANANT, MD; AND SHANDIZ TEHRANI, MD, PhD

BLEPHAROSPASM AND GLAUCOMATOUS VISUAL FIELD DEFECTS

By Mark S. Dikopf, MD; Pete Setabutr, MD; and Thasarat S. Vajaranant, MD

72-year-old man with glau- erosions OU, mild nuclear sclerosis depression OS (Figure 2A). Continued coma was referred for evalu- OU, open angles on , and use of the prostaglandin analogue was A ation. His medical history inferior thinning of the optic disc OU recommended. included systemic hypertension (not (Figure 1). IOP was 16 mm Hg OD and On examination 3 months later, the on beta-blocker treatment), obstruc- 14 mm Hg OS on a nightly prosta- patient had IOPs of 15 mm Hg OU tive sleep apnea, hypercholesterolemia, glandin analogue drop. Inferior nerve with a stable arcuate defect OD and and diet-controlled diabetes mellitus. thinning was confirmed by OCT, and improved, scattered superior defects The patient’s BCVA was 20/20 OD 24-2 automated perimetry revealed a OS (Figure 2B). and 20/25 OS. Examination revealed fixation-threatening superior arcuate 1+ corneal punctate epithelial depression OD and a superior arcuate THE FOLLOWING YEAR Examination every 3 months over A B the following year showed mild punc- tate epithelial erosions and IOPs in the mid to low teens. Automated perimetry at each examination was also stable until redevelopment of a dense superior arcuate depression OS was noted (Figure 2C). Dilated fundus examination did not show retinal or new optic nerve head pathology cor- responding to the observed visual field (VF) defect. At this time, however, the patient noted tightness around his left , which had been occurring sporadi- cally over the past few years. Upon Figure 1. Fundus photographs of the patient’s right (A) and left (B) optic nerves. voluntary forceful contraction of the

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7 - - - - - There 8 refrac blepha 1 Similarly, 3 9,10 Seventh International Visual multifocal IOLs, multifocal 1986;101:706-709. 4-6 Am J Ophthalmol. lens rim artifact, rim lens 2 Dordrecht: Martinus Nijhoff/Dr. W. Junk Publishers; PRIMARY BLEPHAROSPASM PRIMARY basal originating in the dystonia is a as uncontrolled, ganglia and manifesting of musculature. forceful contracture SECONDARY BLEPHAROSPASM contracture of also involves involuntary implicated be and may muscles eyelid causes of and with various syndromes surface irritation. ocular Detecting glaucomatous VF pro VF glaucomatous Detecting etiologies, primary to addition In lead to inappropriate escalation ofescalation inappropriate to lead blepharospasm of effects the therapy, veinsame the in considered be should artifacts. perimetry of causes other as 1. Mikelberg FS, Drance SM, Schulzer MD, Wijsman K. The effect of miosis on visual field indices. In: Greve EL, Heijl A, eds. Field Symposium. 1987:645-649. 2. Weinreb RN, Perlman JP. The effect of refractive correction on automated perimetric thresholds. from ophthalmic drops. Hemifacialdrops. ophthalmic from contractioninvoluntary involves spasm muscles,mimetic as well as eyelid of sec and primary in occurs also it and forms. ondary due challenging be may gression spurious cause can that factors to size, pupil including defects, fatigue. or learning patient and the examining research of paucity a is blepharospasm between relationship conclusive no with glaucoma, and two. the linking evidence investigat research of lack a is there on blepharospasm of effects the ing perimetry. automated environmentaland psychological testing(eg, perimetry during stressors ocularcompromised a of desiccation blepharospasmto lead may surface) automatedon defects misleading and potentiallycould this As perimetry. including dry eye or preservative load preservative or eye dry including tive error, tive cataract, roptosis, - -

- Blepharospasm is an involuntary,an is Blepharospasm be implicated with various syndromesvarious with implicated be irritation,surface ocular of causes and DISCUSSION DISCUSSION muscleseyelid of contraction episodic orprimary either in occur can that blepharo Primary form. secondary inoriginating dystonia a is spasm asmanifesting and ganglia basal the ofcontracture forceful uncontrolled blepha Secondary musculature. eyelid con involuntary involves also rospasm mayit and muscles, eyelid of tracture - - - 9 201 JANUARY/FEBRUARY |

At follow-up glaucoma visits, thevisits, glaucoma follow-up At C B A D linum toxin (Botox, Allergan) therapy.Allergan) (Botox, toxin linum eyelidthe of resolution noted patient consistentlyexamination VF tightness. OSVFs superior improved showed 2D).(Figure spasm was elicited. Subsequent neu Subsequent elicited. was spasm brainstemfor negative was roimaging oflesion compressive a or pathology patientThe nerve. cranial facial the spe oculoplastics an to referred was botu administering began who cialist, orbicularis oculi and oris, hemifacialoris, and oculi orbicularis Figure 2. An initial 24-2 visual field showed a superior arcuate defect in the patient’s left eye (A). Three months later, Figure 2. An initial 24-2 visual field showed a superior arcuate defect in the patient’s left eye (A). Three months later, the arcuate defect had improved (B). One year later, superior arcuate changes were observed (C). Six months after therapy, the patient had a stable, improved superior visual field (D). GLAUCOMA TODAY

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3. Zalta AH. Lens rim artifact in automated threshold perimetry. Ophthalmol- 10. Lee MS, Harrison AR, Grossman DS, Sloan FA. Risk of glaucoma among PETE SETABUTR, MD ogy. 1989;96:1302-1311. patients with benign essential blepharospasm. Ophthalmol Plast Reconstr Surg. 4. Heuer DK, Anderson DR, Knighton RW, Feuer WJ, Gressel MG. The influence 2010;26:434-437. n Associate Professor of ; Director, of simulated light scattering on automated perimetric threshold measure- Oculoplastic & Reconstructive Services; Director, ments. Arch Ophthalmol. 1988;106:1247-1251. 5. Lam Bl, Alward WL, Kolder HE. Effect of cataract on automated perimetry. Millennium Park Eye Center, Illinois Eye and Ear Ophthalmology. 1991;98:1066-1070. Infirmary, University of Illinois at Chicago 6. Budenz DL, Feuer WJ, Anderson DR. The effect of simulated cataract on MARK S. DIKOPF, MD glaucomatous visual field. Ophthalmology. 1993;100:511-517. n Clinical Instructor, Department of Ophthalmology n Financial disclosure: None 7. Farid M, Chak G, Garg S, Steinert RF. Reduction in mean deviation values in automated perimetry in with multifocal compared to monofocal and Visual Sciences, Illinois Eye and Ear Infirmary, intraocular lens implants. Am J Ophthalmol. 2014;158:227-231. University of Illinois at Chicago THASARAT S. VAJARANANT, MD 8. Wild JM, Searle AE, Dengler-Harles M, O’Neill EC. Long-term follow-up of n n Associate Professor of Ophthalmology; Director, baseline learning and fatigue effects in the automated perimetry of glaucoma Private practice, Midwest Center for Sight, Des and ocular hypertensive patients. Acta Ophthalmol (Copenh). 1991;69:210- Plaines, Illinois Glaucoma Service, Illinois Eye and Ear Infirmary, 216. n University of Illinois at Chicago 9. Nicoletti AG, Zacharias LC, Susanna Jr R, Matavoshi S. Patients with [email protected] n essential blepharospasm and glaucoma: case reports. Arq Bras Oftalmol. 2008 n Financial disclosure: None Financial disclosure: None 71:747-751.

TOPLESS DISC SYNDROME AND SCHWARTZ-MATSUO SYNDROME

By Shandiz Tehrani, MD, PhD

CASE NO. 1 A 44-year-old white woman was referred for loss of vision and possible glaucoma. She reported experiencing vision loss for 1 year, and she had been cognizant of peripheral field loss in both eyes for several years. The patient was able to drive in the daytime and at night. Her most recently recorded IOPs were in the 20s mm Hg, and she had been using bimatoprost in both eyes every night at bedtime for 1 month. The patient had a history of ambly- Figure 1. Fundus examination showed bilateral absence of the superior optic nerve head rim, superior peripapillary opia OD, hypertropia OS, and type 2 atrophy, and retinal vessels emanating from the superior optic discs. diabetes mellitus. She had previously undergone strabismus surgery OD in the 1970s. The patient reported no smoking, alcohol use, or illicit drug use. Her mother had a history of reti- nal detachment, and her father was a glaucoma suspect. Upon examination, the patient’s IOP was 15 mm Hg OD and 16 mm Hg OS. Gonioscopy revealed open angles, and central corneal thickness measured 697 µm OD and 719 µm OS. Anterior segment examination was unremark- able OU. Fundus examination showed bilateral absence of the superior optic Figure 2. Humphrey visual field testing showed bilateral partial arcuate defects without involvement of the nasal nerve head (ONH) rim, superior peri- visual field or central vision. papillary atrophy OU, and retinal ves- sels emanating from the superior optic On 24-2 Humphrey VF testing, bilat- involvement of the nasal VF or the discs (Figure 1). eral partial arcuate defects without central vision were evident (Figure 2).

JANUARY/FEBRUARY 2019 | GLAUCOMA TODAY 49 - - - - Because the patient was a healthy a was patient the Because observed OS (Figure 5). (Figure OS observed eleva IOP unilateral with man young chamber anterior pigmented tion, transil iris and examination, on cells differential the defects, lumination glaucomatocyclit included diagnoses syndrome dispersion pigment crisis, ic inflammatory secondary), or (primary spindle OS. Posterior fundus examina fundus Posterior OS. spindle was depression scleral without tion intact bilaterally with unremarkable, 30-2 Humphrey 4). (Figure rims ONH OD, unremarkable was testing VF inferior and superior isolated whereas inferior and superior just defects VF were respectively, spot, blind the to - - - - Upon examination, the patient’s IOPpatient’s the examination, Upon faint peripheral radial iris transillumi iris radial peripheral faint Krukenberg no and defects, nation smoking, alcohol use, or illicit drug illicit or use, alcohol smoking, a included history family Relevant use. pos with grandmother great paternal glaucoma. sible Hgmm 15 and OD Hg mm 13 was anglesopen revealed Gonioscopy OS. meshwork trabecular significant without thick corneal central and pigmentation, AnteriorOU. µm 560 measured ness unremarkwas examination segment 2+ for significant was but OD able cells, pigmented chamber anterior concussions in the 1990s without 1990s the in concussions no reported He trauma. eye known Figure 4. Posterior fundus examination without scleral depression was unremarkable, with bilaterally intact ONH rims. was unremarkable, with bilaterally intact ONH rims. Figure 4. Posterior fundus examination without scleral depression Figure 3. OCT of the peripapillary retinal nerve fiber layer showed remarkably low superior retinal nerve fiber layer showed remarkably low superior retinal nerve fiber layer Figure 3. OCT of the peripapillary retinal nerve fiber layer thickness in both eyes. ------; - - - 9 201 . SSOH is a is SSOH . No therapy istherapy No double-ring sign double-ring 1,2 JANUARY/FEBRUARY |

topless disc syndrome disc topless The patient had a history of sea of history a had patient The A 36-year-old white man wasman white 36-year-old A The structural absence of the supe the of absence structural The With SSOH, patients are typicallyare patients SSOH, With Consultation with neuro-ophthal with Consultation 39 mm Hg OS. The patient was start was patient The OS. Hg mm 39 combina timolol-brimonidine a on ed washe and daily, twice OS drop tion clinic. glaucoma the to referred sports-related and allergies sonal referred for asymptomatic unilateralasymptomatic for referred examina routine On elevation. IOP patientthe optometrist, his by tion fol The OS. Hg mm 26 of IOP an had toincreased had IOP his week, lowing rior ONH with nonclassic inferior VF inferior nonclassic with ONH rior consideration a prompt should loss diagnosis differential the in SSOH of for evaluation undergoing patients of glaucoma. CASE NO. 2 factors include prematurity and lowand prematurity include factors associationstrong a and weight, birth andSSOH between shown been has diabetes. maternal SSOH. for indicated inferior VF defect. VF inferior VFvision. adequate have and young than bilateral commonly more is loss com more is SSOH and unilateral, Riskmales. in than females in mon tions include: (1) relative superiorrelative (1) include: tions artery;retinal central the of entrance halo,scleral peripapillary superior (2) the as known also signifi (4) and pallor; disc superior (3) con The thinning. RNFL superior cant correspondinga in results often dition mology led to a diagnosis of superiorof diagnosis a to led mology (SSOH), hypoplasia optic segmental or anomaly congenital nonprogressive bilat ONH superior the affects that presenta clinical Common erally. ably low superior RNFL thickness RNFL superior low ably respectively;µm, 17 and µm (14 OU ONH/RNFLunusual The 3). Figure func nonclassic and loss structural to referral prompted VF on loss tional subspecialist. neuro-ophthalmology a OCT of the peripapillary peripapillary retinal nerve the of OCT remark showed (RNFL) layer fiber GLAUCOMA TODAY

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A B

Figure 6. Upon referral to the retina-uveitis service, the patient was diagnosed with chronic macula-on retinal detachment and Schwartz-Matsuo syndrome.

and C3F8 gas OS to repair the retinal detachment. His IOP normalized with these interventions. Unilaterally elevated IOP, pigmented Figure 5. On 30-2 Humphrey visual field testing, isolated superior and inferior visual field defects were observed just anterior chamber cells, and a history superior and inferior to the blind spot, respectively, OS (A). Results were unremarkable OD (B). of head trauma (even in the absence of direct eye trauma) should prompt glaucoma (herpes simplex virus or hypertension in the setting of chronic careful evaluation of the peripheral cytomegalovirus), and traumatic rhegmatogenous retinal detachment, retina to rule out Schwartz-Matsuo glaucoma. Given the asymptomatic typically caused by anterior dialysis at syndrome in patients undergoing unilateral findings of anterior cham- the ora serrata.3-5 The pathophysiol- evaluation for glaucoma. n ber cells without an obvious cause, ogy of Schwartz-Matsuo syndrome the patient was referred to the retina- includes the chronic release of pho- Author’s Note: Dr. Tehrani thanks uveitis division for further evaluation. toreceptor outer segments into the Julie Falardeau, MD (neuro-ophthal- Upon referral to the retina-uveitis aqueous humor, which impedes tra- mologist, Oregon Health & Science service, the patient underwent fundus becular meshwork outflow. Primary University), and Phoebe Lin, MD, PhD examination with scleral depres- clinical findings include pigmented (vitreoretinal surgeon, Oregon Health & sion, which showed a far peripheral aqueous cells, elevated IOP with fluc- Science University), for helpful discus- chronic-atrophic retinal detachment tuation, and rhegmatogenous retinal sion and comanagement of these cases. with anterior dialysis and intrareti- detachment with tears around the 1. Petersen RA, Walton DS. Optic nerve hypoplasia with good visual acuity and nal cysts. The patient was diagnosed ora serrata. Treatment includes reti- visual field defects: a study of children of diabetic mothers. Arch Ophthalmol. with chronic macula-on retinal nal detachment repair, which often 1977;95(2):254-258. 2. Kim RY, Hoyt WF, Lessell S, Narahara MH. Superior segmental optic hypo- detachment and Schwartz-Matsuo resolves the ocular hypertension. plasia. A sign of maternal diabetes. Arch Ophthalmol. 1989;107(9):1312-1315. syndrome (Figure 6). Schwartz- Following his diagnosis, the patient 3. Schwartz A. Chronic open-angle glaucoma secondary to rhegmatogenous retinal detachment. Trans Am Ophthalmol Soc. 1972;70:178-189. Matsuo syndrome involves ocular underwent scleral buckling, cryopexy, 4. Matsuo N, Takabatake M, Ueno H, Nakayama T, Matsuo T. Photoreceptor outer segments in the aqueous humor in rhegmatogenous retinal detachment. Am J Ophthalmol. 1986;101(6):673-679. 5. Callender D, Jay JL, Barrie T. Schwartz-Matsuo syndrome: atypical presenta- tion as acute open angle glaucoma. Br J Ophthalmol. 1997;81(7):609-610. PEARLS FOR MANAGING MASQUAREDERS

s SHANDIZ TEHRANI, MD, PhD  Be on the lookout for uncommon visual field loss patterns n Assistant Professor of Ophthalmology, Casey Eye s Assess risk factors, or lack thereof (ie, patient age, central corneal Institute, Oregon Health & Science University, thickness, and history of trauma) Portland, Oregon n s [email protected]  Be aware of anomalous optic discs n Financial disclosure: Research support s Use OCT retinal nerve fiber layer analysis as a supplement to optic from Research to Prevent Blindness (Career disc examination and visual field testing, not as a standalone Development Award to S.T. and unrestricted grant to OHSU); National Institutes of Health/ diagnostic tool National Eye Institute (K08EY024025 to S.T. and P30EY010572 to OHSU)

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