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Retinal Manifestations of Systemic Disease – Part 2

Sundeep Dev, MD

VRSF Retinal Update 2019

VitreoRetinal Surgery, PA

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The Retina and Systemic diseases

Retinitis/Vasculitis

Vitreous cells

Serous detachments

Choroidal lesions

Pigmentary retinopathies

Choroidal folds/Choroidal masses

Retinal Vascular abnormalities

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Pigmentary retinopathies with systemic associations

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40 yo with unilateral VA loss. Va = 20/400

Other eye normal 4

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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

Retained foreign body after penetrating trauma 6

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Diffuse Unilateral Subacute Neuroretinitis (DUSN)

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Diffuse Unilateral SubacuteNeuroretinitis (DUSN)

Unilateral progressive pigmentaryretinopathy, vascular attenuation, optic atrophy, vitritis

Baylisascarisprocyonis (raccoon parasite), Ancylostomacaninum (dog hookworm)

Fecal-oral route worm

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Rubella

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

Measles

Typically bilateral. More common after acquired infection. “Salt and pepper appearance”. ERG/VF diminished, but may recover. 10

Vitamin A Deficiency

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

Acute Zonal Occult Outer Retinopathy (AZOOR)

Late stage12

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Acute Zonal Occult Outer Retinopathy (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

AZOOR

Early stage 14

Autoimmune Retinopathy – high degree of suspicion

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HVF / multifocal ERG

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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 15

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Kearns –Sayre syndrome

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Angioid Streaks

Pseudoxanthoma Elasticum -60-90%

Ehlers –Danlossyndrome

Paget’s disease

Sickle cell disease

Idiopathic

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Angioid Streaks

Hypercalcemia

Marfan syndrome

Hemochromatosis

Acromegaly

Sturge-Weber

Myopia

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Pseudoxanthoma Elasticum

Peau d’orangeMain concerns: Cardiovascular disease from abnormal elastic tissue in blood vessel walls and GI bleeds 23

Choroidal Folds

Hypotony

Choroidal Inflammation

Posterior Scleritis

Hyperopia

Hyperthyroidism

Hyperopia

Postoperative

Retinal detachment repair

CNV/Disciform scar

Choroidal mass

Orbital mass

Idiopathic

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Posterior Scleritis

50 % have associated systemic disease – collagen vascular disease, infectious disease (including Lyme, TB, parasitic)

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Posterior Scleritis

Present with pain, tenderness, vision loss. Choroidal folds/serous RD. Papilledema may be present. Posterior scleral thickening on B scan. Anlgeclosure can occur from choroidal thickening. 26

Posterior Scleritis

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Posterior Scleritis

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Hypotony Maculopathyassociated with Carotid

insufficiency

70 yo. Vsiion CF, IOP =2. No eye surgery. 95% carotid obstruction. May develop rebound glaucoma after reperfusion surgery.

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Other Choroidal lesions and Choroidal masses

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55 yo male with photopsias and distortion for 2 months31

Choroidal mass lesion

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Choroidal Mass- OCT

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Choroidal Mass (EDI)

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Choroidal Mass (Ultrasound)

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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 Drusen36

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Uveal Melanoma

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Ocular Melanosis

Congenital, – may be associated with glaucoma and increased risk of melanoma 38

Astrocytic Hamartoma in Tuberous Sclerosis

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

Astrocytic Hamartoma

Non calcified apperance 40

Astrocytic Hamartoma

Can be isolated and idiopathic. Less common, but can be associated with Neurofibromatosis.

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Astrocytic Hamarotoma

Isolated lesions possible, but need to rule out systemic TS and NF 42

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Retinal capillary hemangioblastoma in Von Hippel-Lindau Syndrome

Often earliest manifestation of VHL. Mean age is 25. 42% unilateral. Most that have multifocal or bilateral, have VHL. Can also be isolated. Genetic testing is best way to screen for the condition.

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Von Hippel Lindau disease

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

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. 45

Wyburn-Mason Syndrome

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Cavernous Hemangioma

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 may help. May involve optic nerve or macula.

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20/20 OD 20/400 OS

Systemic Histiocystosis

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Sclerochoroidal Calcification

Most cases are idiopathic – should test patients for abnormal calcium-phosphorous metabolism. Check parathyroid hormone, vitamin D and calcium levels. Chronic Kidney disease can be associated.

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B-Scan OD

Sclerochoroidal Calcification

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Choroidal Osteoma

A benign ossifying tumor where bone replaces the choroid. More commonly unilateral females in late teens, or early twenties. Oval/round, peripapillary with well defined borders. Slow growing with CNVM in 30-40%.

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BDUMP

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

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 cases. Can also combine anti-VEGF with PDT.

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Choroidal Hemangioma

FA – very early hyperfluorescence of large choroidal vessels with late staining of entire lesion

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Choroidal Hemangioma (EDI)

Most are within 2DD of the nerve. Cystoid degeneration and SRF on OCT. B scan shows high internal reflectivity. 55

Circumscribed Choroidal Hemangioma

Exudation and serous RD cause vision loss. Diffuse choroidal hemangioma occurs in Stuge-Weber syndrome in which case glaucoma can result.

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Choroidal Hemangioma

Would treat with PDT – reduced fluence.57

Retinoblastoma

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B cell lymphoma

Mass Infiltration

Yellow spots

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Metastasis (Breast)

Amelanotic, shallow, round-oval, usually posterior to the equator, may be multifocal60

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Metastasis

Usually bright, hyperfluorecent late, hyperechoic with high internal reflectivity

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Metastatic Breast Cancer

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Metastatic Breast Cancer

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Metastatic Breast Cancer

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Metastatic Breast Cancer

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Lung Metastasis

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Metastatic Renal Carcinoma

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Metastatic Renal Carcinoma

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Metastatic Lung Cancer

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Metastatic Lung Cancer (OCT)

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Metastatic Lung Cancer (EDI)

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GI Metastasis

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Macroaneurysm with old subretinal hemorrhage

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Macroaneurysm

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Varix

Will fluctuate with valsalva maneuver 75

Retinal Vascular Disorders

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Cotton wool spot

50 yo with new blurry spot and no known medical problems 77

Cotton Wool spots Hypertension – usually DBP >110

Diabetes – seen in 44% of cases of DR

Retinal vein occlusion

Inflammatory – GCA, Wegener’s granulomatosis, Polyarteritisnodosa, 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

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Hypertensive Crisis

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Acute Leukocytic Leukemia

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Multiple Myeloma

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Purtscher’s Retinopathy

Classic is after crush injury, long bone fractures. Associated with pancreatitis, amniotic fluid embolism, collagen vascular disease, TTP.

ischemia

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Radiation Retinopathy

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Other Systemic Retinal Vascular Disease

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Ocular ischemic syndrome

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

Retinal Arterial Macroaneurysm

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

Recommend Carotid imaging and Transesophogeal echo. Anticoagulation.

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Susac’s Syndrome

Multiple mid –arteriolar occlusions, tinnitus, mental status changes. MRI. Immunosuppression.

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Susac’s syndrome

mid-arteriolar obstruction89

Lipemia Retinalis

Hypertriglyceridemia with levels > 1000 mg/dl. Genetic hyperlipoproteinemia. Starts peripherally, usually affects posterior vessels at levels of 3500-5000.

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Peripheral Retinal Neovascularization

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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’ disease92

PDR

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PDR after West Nile Virus

Diabetic Retinopathy rapidly progresses after ocular inflammatory disease94

Talc Retinopathy

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SS Disease: Macular infarct

16 year old HM vision after Sickle crisis lead to NVG within 1 month 96

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SC disease

Black sunburst lesions, salmon patches, peripheral ischemia, neovascularization. Hgb electrophoresis.

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Retinal Vasculitis

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Familial Exudative Vitreoretinopathy (FEVR)

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Familial Exudative Vitreoretinopathy (FEVR)

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

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Thanks very much for attending!

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