Retinal Manifestations of Systemic Disease Part 2. Pigmentary retinopathies with systemic associations. The Retina and Systemic diseases

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1 Retinal Manifestations of Systemic Disease Part 2 Sundeep Dev, MD VRSF Retinal Update 2019 VitreoRetinal Surgery, PA The Retina and Systemic diseases Retinitis/Vasculitis Vitreous cells Serous detachments Choroidal lesions Pigmentary retinopathies Choroidal folds/choroidal masses Retinal Vascular abnormalities yo with unilateral VA loss. Va = 20/400 Pigmentary retinopathies with systemic associations 3 Other eye normal 4 Psudoretinitis pigmentosa Syphillis Other inflammatory disease Lyme, AZOOR, DUSN Phenothiazine toxicity Congenital rubella Autoimmune / Cancer associated retinopathy Vitamin A deficiency Resolved exudative detachment VKH, toxemia of pregnancy 5 Retained foreign body after penetrating trauma 6 1

Diffuse Unilateral Subacute Neuroretinitis (DUSN) Diffuse Unilateral Subacute

attenuation, optic atrophy, vitritis Baylisascaris procyonis (raccoon parasite),

or bilateral after congenital or acquired infection. Salt and Pepper appearance.

9 Typically bilateral. More common after acquired infection. Salt and pepper appearance.

10 Vitamin A Deficiency Acute Zonal Occult Outer Retinopathy (AZOOR) Night blindness,

2 Diffuse Unilateral Subacute Neuroretinitis (DUSN) Diffuse Unilateral Subacute Neuroretinitis (DUSN) worm Unilateral progressive pigmentary retinopathy, vascular attenuation, optic atrophy, vitritis Baylisascaris procyonis (raccoon parasite), Ancylostoma caninum (dog hookworm) Fecal-oral route 7 8 Rubella Measles Can be unilateral or bilateral after congenital or acquired infection. Salt and Pepper appearance. Vision and ERG usually normal. Vessels usually normal. Cataract may be present. 9 Typically bilateral. More common after acquired infection. Salt and pepper appearance. ERG/VF diminished, but may recover. 10 Vitamin A Deficiency Acute Zonal Occult Outer Retinopathy (AZOOR) Night blindness, severe dry eye. Common in children in developing world. Can occur after bariatric surgery, with malabsorption, or liver disease. ERG/VF changes. Pigmentary retinopathy. Treatment: Vitamin A. 11 Late stage 12 2

Acute Zonal Occult Outer Retinopathy (AZOOR) AZOOR Typically young females in mid

changes with delayed development of zones of atrophic RPE.

13 Early stage 14 Autoimmune Retinopathy high degree of suspicion HVF / multifocal

Diseases associated with Reitinitis Pigmentosa Consider in young patients with RP

Hereditary abetalipoprotenemia recessive, RP with fat intolerance, deficiency of

3 Acute Zonal Occult Outer Retinopathy (AZOOR) AZOOR Typically young females in mid 30 s. Present with photopsias, scotomas, VF loss with ERG changes, minimal fundus changes with delayed development of zones of atrophic RPE. Start unilateral, but often become bilateral. Poor prognosis. 13 Early stage 14 Autoimmune Retinopathy high degree of suspicion HVF / multifocal ERG Gardner s syndrome Familial polyposis coli autosomal dominant 17 Systemic Diseases associated with Reitinitis Pigmentosa Consider in young patients with RP Refsum s disease recessive, associated with increased phytanic acid levels. Hereditary abetalipoprotenemia recessive, RP with fat intolerance, deficiency of vitamins A, D, E, and K Kearns-Sayre syndrome - recessive, salt and pepper appearance, normal arterioles, CPEO, ptosis, heart block by age

4 Kearns Sayre syndrome Angioid Streaks Pseudoxanthoma Elasticum % Ehlers Danlos syndrome Paget s disease Sickle cell disease Idiopathic Angioid Streaks Hypercalcemia Marfan syndrome Hemochromatosis Acromegaly Sturge-Weber Myopia Pseudoxanthoma Elasticum Choroidal Folds Peau d orange Main concerns: Cardiovascular disease from abnormal elastic tissue in blood 23 vessel walls and GI bleeds Hypotony Choroidal Inflammation Posterior Scleritis Hyperopia Hyperthyroidism Hyperopia Postoperative Retinal detachment repair CNV/Disciform scar Choroidal mass Orbital mass Idiopathic 24 4

Posterior Scleritis Posterior Scleritis 50 % have associated

(including Lyme, TB, parasitic) 25 Present with pain,

Anlge closure can occur from choroidal thickening.

Maculopathy associated with Carotid insufficiency Other

5 Posterior Scleritis Posterior Scleritis 50 % have associated systemic disease collagen vascular disease, infectious disease (including Lyme, TB, parasitic) 25 Present with pain, tenderness, vision loss. Choroidal folds/serous RD. Papilledema may be present. Posterior scleral thickening on B scan. Anlge closure can occur from choroidal thickening. 26 Posterior Scleritis Posterior Scleritis Hypotony Maculopathy associated with Carotid insufficiency Other Choroidal lesions and Choroidal masses 70 yo. Vsiion CF, IOP =2. No eye surgery. 95% carotid obstruction. May develop rebound glaucoma after reperfusion surgery

6 Choroidal mass lesion 55 yo male with photopsias and distortion for 2 months Choroidal Mass- OCT Choroidal Mass (EDI) Choroidal Mass (Ultrasound) Ocular Melanoma worrisome findings on exam/testing Thickness - > 2 mm Fluid/ Fluorescein leakage Symptoms - Photopsias Orange Pigment Margins near the optic disc (within 3 mm) Acoustic hollowness (Low internal reflectivity) Absence of Halo/ Absence of Drusen

7 Uveal Melanoma Ocular Melanosis 37 Congenital, may be associated with glaucoma and increased risk of melanoma 38 Astrocytic Hamartoma in Tuberous Sclerosis Astrocytic Hamartoma Classic calcific Mulberry lesion. CNS astrocytoma, seizures, mental retardation, adenoma sebaceum, ash leaf spot, subungual fibroma, café au lait spots. Uusually bilateral in TS. 39 Non calcified apperance 40 Astrocytic Hamartoma Astrocytic Hamarotoma Can be isolated and idiopathic. Neurofibromatosis. Less common, but can be associated with 41 Isolated lesions possible, but need to rule out systemic TS and NF 42 7

Retinal capillary hemangioblastoma in Von Hippel-Lindau Syndrome

43 Feeder arteriole and draining venule.

Va loss from exudation, traction, VH, NVG.

Laser/Cryo/Radiation/ surgical excision. +/- seteroids/ anti-vegf.

44 Wyburn-Mason Syndrome Wyburn-Mason Syndrome Non-hereditary,

- involves retina and midbrain seizures, hemiparesis.

8 Retinal capillary hemangioblastoma in Von Hippel-Lindau Syndrome Von Hippel Lindau disease Often earliest manifestation of VHL. Mean age is % unilateral. Most that have multifocal or bilateral, have VHL. Can also be isolated. Genetic testing is best way to screen for the condition. 43 Feeder arteriole and draining venule. FA shows rapid filling and leakage. Va loss from exudation, traction, VH, NVG. Small ones can be observed. Laser/Cryo/Radiation/ surgical excision. +/- seteroids/ anti-vegf. Prognosis depends on tumor size. 44 Wyburn-Mason Syndrome Wyburn-Mason Syndrome Non-hereditary, Congenital Unilateral, can progress in childhood.- involves retina and midbrain seizures, hemiparesis. Vision can be normal to severe loss due to intraretinal heme and NVG. No clear Rx Cavernous Hemangioma Systemic Histiocystosis 20/20 OD 20/400 OS Benign vascular hamartoma. Most are sporadic, they can be autosomal dominant and associated with brain and skin hemangiomas. Grape like clusters with stagnant blood flow cause layering on FA. No leakage. Usually no Rx and asymptomatic unless traction or VH develops in which case cryo/laser 47 may help. May involve optic nerve or macula. 48 8

Sclerochoroidal Calcification Sclerochoroidal Calcification B-Scan OD Most

metabolism. Check parathyroid hormone, vitamin D and calcium levels.

49 50 Choroidal Osteoma BDUMP A benign ossifying tumor where bone replaces

More commonly unilateral females in late teens, or early twenties.

infiltration associated with systemic malignancy (ovarian, uterine, lung

Cutaneous and mucosal involvement has been observed.

9 Sclerochoroidal Calcification Sclerochoroidal Calcification B-Scan OD Most cases are idiopathic should test patients for abnormal calciumphosphorous metabolism. Check parathyroid hormone, vitamin D and calcium levels. Chronic Kidney disease can be associated Choroidal Osteoma BDUMP A benign ossifying tumor where bone replaces the choroid. More commonly unilateral females in late teens, or early twenties. Oval/round, peripapillary with 51 well defined borders. Slow growing with CNVM in 30-40%. A rare paraneoplastic condition with diffuse uveal melanocytic infiltration associated with systemic malignancy (ovarian, uterine, lung most common). Often associated with rapidly progressive cataracts. Cutaneous and mucosal involvement has been observed. 52 Cirumscribed Choroidal Hemangioma Choroidal Hemangioma Red-orange, round or oval in posterior ½ of fundus. Usually 1-3 mm thick and 3-7mm in diameter. Can get fibrous changes on surface. Often get can a serous detachment and cystic degeneration. PDT is quite effective. Radiation in severe 53 cases. Can also combine anti-vegf with PDT. FA very early hyperfluorescence of large choroidal vessels with late staining of entire lesion 54 9

B scan shows high internal reflectivity.

10 Choroidal Hemangioma (EDI) Circumscribed Choroidal Hemangioma Most are within 2DD of the nerve. Cystoid degeneration and SRF on OCT. B scan shows high internal reflectivity. 55 Exudation and serous RD cause vision loss. Diffuse choroidal hemangioma occurs in Stuge-Weber syndrome in which case glaucoma can result. 56 Choroidal Hemangioma Retinoblastoma Would treat with PDT reduced fluence B cell lymphoma Metastasis (Breast) Mass Infiltration Yellow spots 59 Amelanotic, shallow, round-oval, usually posterior to the equator, may be multifocal 60 10

11 Metastasis Metastatic Breast Cancer Usually bright, hyperfluorecent late, hyperechoic with high internal reflectivity Metastatic Breast Cancer Metastatic Breast Cancer Metastatic Breast Cancer Lung Metastasis

12 Metastatic Renal Carcinoma Metastatic Renal Carcinoma Metastatic Lung Cancer Metastatic Lung Cancer (OCT) Metastatic Lung Cancer (EDI) GI Metastasis

Macroaneurysm with old subretinal hemorrhage Macroaneurysm 73 74 Varix Retinal Vascular Disorders Will

>110 Diabetes seen in 44% of cases of DR Retinal vein occlusion Inflammatory GCA, Wegener s

Lyme, Toxoplasmosis, Mucormycosis, Leptospirosis Coagulopathies Sickle cell disease, omocysteinemia,

disease Miscellaneous Migraine, severe anemia, Leukemia/lymphoproliferative disorders, Interferon

13 Macroaneurysm with old subretinal hemorrhage Macroaneurysm Varix Retinal Vascular Disorders Will fluctuate with valsalva maneuver Cotton wool spot Cotton Wool spots Hypertension usually DBP >110 Diabetes seen in 44% of cases of DR Retinal vein occlusion Inflammatory GCA, Wegener s granulomatosis, Polyarteritis nodosa, Systemic Lupus, Scleroderma Infectious CMV, HIV retinopathy, Lyme, Toxoplasmosis, Mucormycosis, Leptospirosis Coagulopathies Sickle cell disease, omocysteinemia, Lupus anticoagulant syndrome, Proteins C, S, antithrombin III deficiencies Embolic Carotid and Cardiac disease Miscellaneous Migraine, severe anemia, Leukemia/lymphoproliferative disorders, Interferon therapy, Radiation, Purtscher s retinopathy, Papilledema 50 yo with new blurry spot and no known medical problems

$fractures.$ Associated with pancreatitis,

14 Hypertensive Crisis Acute Leukocytic Leukemia Multiple Myeloma Purtscher s Retinopathy ischemia Classic is after crush injury, long bone fractures. Associated with pancreatitis, amniotic fluid embolism, collagen vascular disease, TTP Radiation Retinopathy Other Systemic Retinal Vascular Disease

Ocular ischemic syndrome Retinal Arterial

Delayed choroidal filling and A/V transit.

Laser, but anti-vegf seems to help regress as

86 Emboli Susac s Syndrome Recommend Carotid

15 Ocular ischemic syndrome Retinal Arterial Macroaneurysm Symptoms of vision loss, transient vision loss, pain. May be asymptomatic. Delayed choroidal filling and A/V transit. Unilateral cataract, iritis, low IOP initially, but may go into NVG. Asymmetric Diabetic Retinopathy. 85 Elderly females with HTN. Treat those with leakage/exudation. Laser, but anti-vegf seems to help regress as well. Those that bleed often fibrose. 86 Emboli Susac s Syndrome Recommend Carotid imaging and Transesophogeal echo. Anticoagulation. 87 Multiple mid arteriolar occlusions, tinnitus, mental status changes. MRI. Immunosuppression. 88 Susac s syndrome Lipemia Retinalis mid-arteriolar obstruction 89 Hypertriglyceridemia with levels > 1000 mg/dl. Genetic hyperlipoproteinemia. Starts peripherally, usually affects posterior vessels at levels of

Peripheral Retinal Neovascularization Peripheral Retinal

cell retinopathy (SC) Sarcoidosis Drug abuse embolization/

Leukemia/anemia Eales disease 91 92 PDR PDR after West Nile

inflammatory disease 94 Talc Retinopathy SS Disease: Macular

16 Peripheral Retinal Neovascularization Peripheral Retinal Neovascularization Diabetes Vein occlusion (branch) Sickle cell retinopathy (SC) Sarcoidosis Drug abuse embolization/ talc retinopathy Chronic uveitis/pars planitis Vasculitis Leukemia/anemia Eales disease PDR PDR after West Nile Virus 93 Diabetic Retinopathy rapidly progresses after ocular inflammatory disease 94 Talc Retinopathy SS Disease: Macular infarct year old HM vision after Sickle crisis lead to NVG within 1 month 96 16

SC disease Retinal Vasculitis Black sunburst lesions,

neovascularization. Hgb electrophoresis.

Familial Exudative Vitreoretinopathy (FEVR) 99 OCT may

systemic associations Keep in mind patterns of retinal

be bilateral or unilateral Often no overt systemic

However, many times the symptoms are there if

17 SC disease Retinal Vasculitis Black sunburst lesions, salmon patches, peripheral ischemia, neovascularization. Hgb electrophoresis Familial Exudative Vitreoretinopathy (FEVR) Familial Exudative Vitreoretinopathy (FEVR) 99 OCT may show temporal thinning 100 Conclusions Many retinal - systemic associations Keep in mind patterns of retinal abnormalities that should raise clinical suspicion May be bilateral or unilateral Often no overt systemic symptoms at the time of ocular presentation. However, many times the symptoms are there if specifically looked for. The ophthalmologist can have a life-saving role Thanks very much for attending!

CLINICAL PEARLS IN OCULAR ONCOLOGY

CLINICAL PEARLS IN OCULAR ONCOLOGY IRIS NEVUS - Two kinds circumscribed and diffuse - Photodocumentation important to monitor growth - Risk Factors for iris nevus growth to melanoma (ABCDEF) A Age (young),