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COS 2016: CSORN Education Symposium Retinal Problems You Don’t Want to Miss Bernard R. Hurley, MD, FRCSC Financial Disclosure I have received speaking honoraria from Alcon Novartis Allergan Nikon Bayer I have participated in advisory boards for Bayer Novartis Alcon Outline Vast subject Series of 14 interesting cases » Each illustrate a retinal finding with important implications Common and important Timely diagnosis and treatment » Important for preserving vision Rare but serious Timely diagnosis and treatment » Important for preserving life Every eye doctor’s dream Summary Case #1 : A common scenario Diagnosis with profound ophthalmic and systemic implications 73 year old male Woke up previous morning unable to see anything from right eye Case #1 : A common scenario 73 year old male blind in the right eye x 48 hours IVFA confirms CRAO NO emboli seen Case #1: Subsequent Systems Review Severe jaw pain with eating “Everything I eat has to go though a blender because I can’t chew anything” Saw his dentist » TMJ problem, night prosthesis Severe bi-temporal headaches Saw his G.P. and given a TENS machine for tension headaches » Transcutaneous electrical nerve stimulation Low-voltage electrical current for pain relief Case #1: Subsequent Systems Review Severe jaw pain with eating Severe bi-temporal headaches Shoulder Saw and hip pain his rheumatologist » Low dose oral prednisone Polymyalgia rheumatica Neck pain, weight loss, intermittent blurred vision O.S. Additional tests ordered to confirm diagnosis Initial Management Visual loss caused by giant cell arteritis is a medical emergency Prompt I.V. treatment with systemic corticosteroids high dose steroids First advocated as treatment » A single case report 25 years ago Currently no consensus regarding the dose, regimen, and duration of treatment Chan, C.C.K. et al. Steroid management in giant cell arteritis. British Journal of Ophthalmology 2001;85:1061-1064 Treatment Summary Visual Loss Clinical Suspicion Yes No No Yes No Corticosteroids 1 g I.V. Solumedrol daily High dose oral High (1.5-2 mg/kg/day) Moderate dose oral Intermediate (1-1.5 mg/kg/day) Moderate dose oral Low/Intermediate (1-1.5 mg/kg/day) Laboratory work-up Low/Intermediate Biopsy High Adapted from M. Tariq Bhatti and Homayoun Tabandeh. Giant Cell Arteritis. Current Opinion in Ophthalmology. December 2001;12:393-399. Case #1 : A common scenario Diagnosis with profound ophthalmic and systemic implications GCA A common clinical scenario Often seen on formal exams Keep high index of suspicion » Elderly patient with visual loss Consider » CRAO » AION in cases of Case # 2 58 year old male Seen for intermittent blurred vision OU Abnormal fundus findings prompting retina consult Ocular Signs: Cotton-Wool Spots Very important clinical sign 98% of patients with cotton-wool spots have an associated systemic disease » Brown et al. Cotton Wool Spots. Retina 1985;5:206-214 Important Differential: » » » » » » » » » » » Diabetes HTN Branch/Central Vein Occlusion Ocular Ischemic Syndrome Carotid Emboli Sickle-cell retinopathy Radiation retinopathy Vasculitis (especially Lupus) Leukemia HIV Giant Cell Arteritis Case # 2 58 year old male Seen for intermittent blurred vision OU Abnormal fundus findings prompting retina consult Good VA OU ROS Jaw pain Headache Neck stiffness ESR = 107 Biopsy Positive for GCA Cotton-Wool Spots and Giant Cell Arteritis Cotton-wool spots in GCA initially reported in 1970 Advocated as a prominent early ophthalmologic sign Proceeding irreversible visual loss in GCA Melberg et al. Cotton-wool spots and the early diagnosis of giant cell arteritis. Ophthalmology 1995; 102(11):1611-4. “any patient older than 55 with the ophthalmoscopic finding of one cotton-wool spot, even in the absence of other clinical symptoms deserves specific questions regarding constitutional symptoms” Cases #3 60 year old male Significant cataract OD Removed with “perfect” surgery Initial post op period Excellent improvement in VA » Over next several weeks Significant reduction in vision Diagnosed with post op CME » Irvine-Gass syndrome » Intensive topical steroids No response despite good compliance Cases #3: CNVM Masquerading as CME 60 year old male Expected to see CME Consider other common diagnosis in the cataract population Wet AMD Worsening diabetic retinopathy Vascular occlusion » Small vein or artery occlusion Cases #4 60 year old male Significant cataract OS Removed with “perfect” surgery Initial post op period Excellent improvement in VA » Over next several weeks » Significant reduction in vision Diagnosed with PCO » No improvement with YAG Cases #4 60 year old male Significant cataract OS Removed with “perfect” surgery Dilated Fundus exam: Central macular cyst » Irvine Gass Started on PF » Q1H No response » OCT not typical » Retina opinion Chronic inferior RD Case #5: Unexplained Iritis 60 year old gentleman Chronic unilaterial iritis Decreased vision Unresponsive to steroid therapy Unusual Cells pigmented Elevated IOP Further exam » Field defect Dilated Superior fundus exam Chronic inferior RD Case #5: Another Hidden Retinal Detachment RD may present with chronic iritis Cells often pigmented Associated with glaucoma » Most RD associated with low IOP This clinical entity well described Schwartz-Matsuo Cells phenomenon may actually be Liberated RPE cells Photoreceptor outer segments Case #6: Case Presentation 54 year old white female Sub acute vision OD POH: none Medical History, Family History, ROS: unremarkable VA: 20/40 OD 20/20 OS Case #6: B Scan Technician comments: 6.35 mm x 9.64 mm 2.52 mm height Solid, homogenous Low internal reflectivity Scleral excavation ? Intrinsic pulsations Early choroidal Melanoma Case #7: Case Presentation 50 year old white female Seen by ophthalmologist » Referred to retina service SBP for mac. off RD OS “Visual disturbance” OS » Present for 4 months Driving her car » Rubbed OD “Could not see anything” Comment on referral » Detachment so obvious, emergency physician saw it! Case #7: Case Presentation 50 year old white female Seen by ophthalmologist » Referred to retina service SBP for mac. off RD OS “Visual disturbance” OS x 4/12 Rubbed OD » “Could not see anything” POH: Medical History: None Unremarkable VA: LP OS 20/25++ OD Case #7 50 year old white female Seen by ophthalmologist » Referred to retina service SBP for mac. off RD OS Warning signs Exudative detachment » No retinal break » Variable vision loss » Retinal vessels visible on slit lamp exam » Pigmented sub retinal mass Beware mass the elevated pigmented Choroidal Melanoma Color varies B-Scan characteristics Brown Grey Pale yellow (amelanotic) Overlying clumps of orange pigment Low internal reflectivity Hollow Intrinsic vessels (pulsations) IVFA Early mottled hyperfluorescence with progressive staining Choroidal Melanoma Prognosis 5 year survival 80% Average survival 7 years Worse prognosis » » » » Larger size Tumor cell type (epithelioid) Mets Location (near nerve) Melanoma versus Nevus Pneumonic To Thickness Find Fluid Small Symptoms Ocular Orange Pigment Melanoma Macular or optic nerve location No No Delay Drusen Case #8: What about flat pigmented lesions Pigmented Usually lesions are common of no clinical significance Congenital hypertrophy of the retinal pigment epithelium Flat non progressive lesion Deeply pigmented Small border of depigmentation Lacunar areas of depigmentation within lesion Case #8: What about flat pigmented lesions Mulitfocal lesions Often reminiscent of a bear walking through the fundus Little risk of malignant transformation Beware Oblong shape Depigmented halo and tail Gardner’s syndrome Case #8: Gardner’s syndrome Multifocal fundus lesion resembling CHRPE Oval Depigmented “tail” Bilaterial Irregular borders Scattered throughout the fundus Gardner’s Familial syndrome cancer syndrome » Colonic polyps » Extraintestinal osteomas and fibromas Invariable progression to colonic cancer Retinal lesions are virtually diagnostic » For a patient with positive family history Case #8: Gardner’s syndrome Multifocal fundus lesion resembling CHRPE Oval Depigmented “tail” Bilaterial Irregular borders Scattered throughout the fundus Gardner’s Very syndrome few bear track lesions are concerning Patients with typical bilateral lesions Should be referred for colonoscopy Case #9: Presentation 31 year old white female Presents with » Slightly decreased vision » Mild loss of peripheral vision » Some difficulty with night vision Cases #9: Presentation Examination Vision »OD: 20/20-3, OS: 20/30-2 SLE »normal (no cataract or vitreous cells) Case #9: Interesting External Findings Lids Bilaterial ptosis EOM’s Progressive restriction Case #9: Additional Findings Muscle biopsy (leg) Classic changes of mitochondrial myopathy » “Ragged red” fibers on Gomori-trichrome staining Diagnosis? Kearns-Sayre Syndrome Case #9: Kearns-Sayer Syndrome Mitochondrial myopathy Distorted mitochondria accumulate in skeletal muscle » EOMs, heart, RPE Sporadic inheritance » Rarely autosomal dominant Characteristic findings Ptosis Progressive external ophthalmoplegia Pigmentary retinal degeneration » Rarely cause severe loss of VA Case #9: Kearns-Sayer Syndrome Sytemic May Implications get » Weakness of skeletal muscles » Deafness » Small stature Most important feature HEART BLOCK » Potentially fatal » Requires pacemakere Case #10: More systemic implications Pleasant Saw 36 year old male optometrist for glasses Referred for retinal change » Asymptomatic VA » 20/20 OD » 20/20 OS Anterior No segment unremarkable previous ocular, medical, family history Case #10: Color Pleasant 20/20 36 year old male OU Asymptomatic Case #10: Diagnosis? DDX PPCNVM » Sub-retinal grey tissue » Early Hyper-fluorescence » Late leakage Capillary hemangioma » May involve disk and peripapillay retina » Circular orange/pink/red tumor » Supplied by dilated tortuous artery and drained by engorged vein Case #10: Systemic Work-up Head MRI: No hemangioblastoma of cerebellum No other abnormalities Abdominal MRI: No adrenal, renal, or pancreatic masses noted Case #10: Diagnosis Retinal capillary hemangioma Secondary to Von Hipple-Lindau Disease Case #10: Von Hippel-Lindau Disease Inherited cancer syndrome Predisposing one to developing multiple tumors » CNS » Retina » Multiple other organs Autosomal dominant Incidence – 1:36,000 live births Prevalence ≈ 750 patients in Canada Most live in Newfoundland Ophthalmologic Findings Group Retinal Location most capillary hemangioma Number frequent and earliest manifestation of VHL Juxtapapillary » mean age at diagnosis - 25years Extrapapillary Superotemporal Overall Frequency - 49-85% Inferotemporal Superonasal Inferonasal by Supplied Size Pair of dilated, tortuous vessels 0-1.5mm Difficult to distinguish artery form 1.6-3.0mm 3.1-4.5mm 4.6-6.0mm Location and size distribution: >6.0mm 17% 44% 12% 15% 12% 58% vein 23% 6% 5% 8% Ophthalmologic Findings Retinal capillary hemangiomas Progressively Secondary Macular enlarge Effects Star/Exudate (>25%) Exudative RD (16%) Tractional RD (9%) Macular Pucker (9%) Vitreous hemorrhage Ophthalmologic Findings Probability of VHL disease in a patient with a solitary retinal hemangioma: 30-46%. Median Age with VHL Disease: 17.6 Median Age in Sporadic Cases: 36.1 Hemangiomas in patients with VHL disease compared to sporadic cases are clinically indistinguishable. Systemic Findings Retinal changes seen prior to lethal tumors Surveillance Guidelines (NIH) Dilated Fundus Exam Annually (age 1+) Fluorescein Angiography Not Recommended Urinary Catecholamines Annually (age 2+) MRI, Brain and Spine Every 2 years (11-60) Abdominal Ultrasound Annually (age 11+) Abdominal CT Every 1-2 years (age 21+) VHL Summary Autosomal dominant cancer syndrome Predisposing the patient to multiple tumors CNS, renal and adrenal most common Retinal hemangiomas Earliest and most common manifestation Diagnosis Systemic is primarily made clinically workup and lifelong surveillance required Case #11: Unexplained Visual Loss 60 year old otherwise healthy female 4 month history of slow progressive loss of vision » “I just can’t see right” VA = 20/40 OU Seen several ophthalmologists » “Normal eye exam” Initially felt to be malingering Severe constriction on visual fields Still malingering? Retina consult Small ERM OD Otherwise healthy Case #11: Unexplained Visual Loss ERG obtained everything is good Amplitude (20 m/div) Prove ERG revealed reduced b-wave amplitudes reversed a/b ratio Time (5 ms per division) Diagnosis ? Case #11: Unexplained Visual Loss Work-up for chronic cough Massive lesion on chest X-ray » Diagnosed as small cell lung cancer » Work-up revealed leason metastatic to brain Diagnosis? Carcinoma-associated retinopathy (CAR) Case #11: CAR Cancer-associated retinopathy (CAR) Visual paraneoplastic disorder » Autoantibodies against tumor antigen Cross-react with retinal proteins Result in photoreceptor dysfunction Associated malignancy Small cell lung carcinoma Others » Breast, gynecologic, endocrine Presentation Severe, progressive, bilateral loss over months Case #12: Unexplained Visual Loss 44 year old white male Sub acute vision OU POH: Low myopia Medical History, Family History, ROS: Unremarkable VA: 20/80 OD 20/80 OS Case #12: Unexplained Visual Loss 44 year old white male acute vision OU 20/80 OU → 20/100 post CEIOL Sub Anterior Mild Segment: cataract Fundus: Normal ? Temporal pallor Case #12: Unexplained Visual Loss 44 year old white male acute vision OU 20/80 OU → 20/100 post CEIOL Normal fundus Sub OCT No CME IVFA Normal ERG Cone dystrophy Case #12: Cone Dystrophy 44 year old white male acute vision OU 20/80 OU → 20/100 post CEIOL Normal fundus Sub Cone dystrophy Inherited defect » Progressive loss of cone function » Quite variable in onset and time course Macular changes typically follow vision loss Fundus may appear normal early in disease Case #12: Unexplained Visual Loss Remember cases of decreased vision from retinal causes with normal appearing fundus: Retinal dystrophies » Stargardt’s » Butterfly/pattern dystrophy Some others to consider » Reperfused CRAO » Toxic retinopathy » Twig branch retinal vein or artery occlusion Case #13: Chronic Uveitis Patient 66 ID year old male Medical history Healthy History Chronic severe panuveitis OD >> OS Worsening on topical therapy ROS Weight loss, anorexia, fatigue Case #13: Chronic Uveitis Beware the chronic posterior or intermediate uveitis of unknown etiology Inadequate control with medications or Other feature on systems review that suggest a possible masquerade syndrome Consider an intraocular biopsy Diagnostic/therapeutic vitrectomy Case #13: Management 23 G vitrectomy Minimal trauma and worsening of inflammation in hot eye Place infusion port and confirm its location » Do not initiate infusion Undiluted sample is best for cytopathologic analysis Technique for Biopsy Vitreous cytology revealed Malignant cells with vacuolated cytoplasm and enlarged nuclei » Possible malignant melanoma or lung cancer Patient died from lung CA seven months later Case #13: Chronic Uveitis Beware the chronic posterior or intermediate uveitis of unknown etiology Inadequate control with medications or Other concerning features on systems review Consider ocular biopsy to rule out masquarade syndrome Intraocular lymphoma Case #14: A Final Interesting Case 53 year old white male Sparkling, dazzling “rainbows” OS x 2-3/12 » Diagnosed with PVD Referred for interesting retinal appearance OS POH: Lost OD to gunshot wound » Disagreement over a business transaction Multiple episodes of blunt trauma OS VA: NLP 20/25 OD OS Case #14 53 year old white male Sparkling, dazzling “rainbows” OS x 2-3/12 » After injecting IV drugs POH: ROS: gunshot wound OD blunt trauma OS IV drug abuse VA: NLP 20/25 OD OS Diagnosis: Talc retinopathy Talc Used as inert material for tablets Drug abusers crush tablets Dissolve in water Inject Talc particles embolize to the retina Multiple tiny, glistening particles Perimacular Talc retinopathy Talc particles embolize to the retina Multiple tiny, glistening particles Peripheral » Leads to occlusion and neovascularization Static retinopathy Once the IV drug discontinued » Martidis et al. Am. J. Ophthalmology, 1997 Other Drug Induced Retinal Crystals Tamoxifen Anti-estrogen drug » Treatment of breast cancer Toxicity requires high dose » >100 g cumulatively » Extensive crystalline deposits » Reversible if discovered in time Other causes of crystalline retinopathy Canthaxanthine » Used to stimulate tanning Methoxyflurane anesthesia Case 14: Take a good history 53 year old white male Sparkling, dazzling “rainbows” OS x 2-3/12 » After injecting IV drugs History of gunshot wound during business transaction » Dealing IV drugs Systems review may provide important clues This case GCA case Masquade syndrome Summary: 14 Interesting Cases Don’t Forget GCA (Cases 1,2) Retinal arterial occlusion Cotton wool spots Systemic disease presenting in the retina » HTN » Diabetes » Important sign Vision loss post CEIOL (Cases 3,4) » Consider CNVM » Chronic RD Others – Worsening CSME (diabetic) Retinal detachments may be more that they appear (Case 5,6,7) » Swartz-Matzo » Melanoma Interesting » Von-Hipple Lindau » Gardner’s syndrome » Kearn’s Sayer Irvine-Gass Common Patient with unexplained decreased vision Case 11, 12, 13, 14 Retinal dystrophies CAR
