Systemic Conditions

Question 1

Abusive Head Trauma. What is it?

Answer 1

<ul> <li>Head injury inflicted by shaking </li> <li>Children under 1 year of age at risk because their neck muscles cannot stabilize head </li> <li>Associated with subdural hemorrhage, occult evidence of blunt trauma </li> <li>Principal ophthalmic manifestation: retinal hemorrhages, which result from... </li> <li>Shearing at interface of retina and vitreous </li> </ul>

Question 2

Abusive Head Trauma. How does it appear?

Answer 2

<ul> <li>One or more <a>surface retinal hemorrhages</a>, looking like red blisters </li> <li>Usually present in both eyes </li> <li>Deeper retinal hemorrhages and retinal splitting may occur in severe cases </li> </ul>

Question 3

Abusive Head Trauma. What else looks like it?

Answer 3

<ul> <li>Blood dyscrasias, especially <a>thrombocytopenia</a>, but can be diagnosed with blood count</li> <li>Severe blow to eyes, but should see <a>subconjunctival hemorrhage</a> and <a>hyphema</a> </li> <li>Birth trauma, but hemorrhages disappear spontaneously within 1 month of age </li> <li>Resuscitative chest compression (sudden rise in intrathoracic pressure), but hemorrhages few and mild </li> </ul>

Question 4

Abusive Head Trauma. How do you manage it?

Answer 4

<ul> <li>Consult ophthalmologist if you suspect abusive head trauma, especially by shaking </li> </ul>

Question 5

Abusive Head Trauma. What will happen?

Answer 5

<ul> <li>Hemorrhages resolve within 4-6 weeks </li> <li>Visual recovery good unless retina has split </li> <li>Neurologic outcome depends on severity of brain injury </li> </ul>

Question 6

Bacterial Endocarditis. What is it?

Answer 6

<ul> <li>Bacterial infection of heart valve </li> <li>Systemic manifestations: fever, fatigue, positive blood cultures for bacteria</li> <li>Ophthalmic manifestations: retinal hemorrhages, cotton wool spots, Roth spots, retinal infarcts </li> </ul>

Question 7

Bacterial Endocarditis. How does it appear?

Answer 7

<ul> <li>No visual symptoms unless retinal occlusions are large or close to fovea </li><li><a>Flame-shaped retinal hemorrhages</a>, <a>cotton wool spots</a>, and <a>Roth spots</a>—white-centered flame hemorrhages that are combinations of hemorrhages and cotton wool spots </li> <li>Areas of gray turbidity indicating <a>retinal infarction</a></li> <li><a>Fluffy white balls</a> indicating retinal infection that has originated in retina and spread into vitreous; this manifestation is rare </li> </ul>

Question 8

Bacterial Endocarditis. What else looks like it?

Answer 8

<ul> <li>Systemic hypertension </li> <li>HIV/AIDS </li> <li>Connective tissue diseases </li> <li>Systemic infection </li> <li>Blood dyscrasia </li> <li>Behçet disease </li> <li>Hypercoagulable states </li> </ul>

Question 9

Bacterial Endocarditis. How do you manage it?

Answer 9

<ul> <li>If considering diagnosis of bacterial endocarditis, refer to ophthalmologist for detection of occlusive retinopathy, although may have causes other than endocarditis </li> </ul>

Question 10

Bacterial Endocarditis. What will happen?

Answer 10

<ul> <li>Retinal abnormalities disappear if endocarditis effectively treated </li> <li>Vision impaired only if large retinal areas infarcted or infected</li> </ul>

Question 11

Behçet Disease. What is it?

Answer 11

<ul> <li>Autoimmune disorder causing vasculitis principally in eyes, mucous membranes, skin, but also in many other organs</li> <li>Diagnosed most commonly in Middle East and Asia around old Silk Road trading route</li> <li>Main systemic manifestations: recurrent painful mouth and genital ulcers, arthritis, meningoencephalitis</li> <li>Main ophthalmic manifestations: anterior uveitis often with hypopyon, retinal vasculitis, vitreous cells, optic neuropathy, papilledema from dural venous sinus thrombosis </li> </ul>

Question 12

Behçet Disease. How does it appear?

Answer 12

<ul> <li>Vision loss, photophobia, floaters</li> <li><a>Ciliary flush</a>, hazy cornea, <a>hypopyon</a></li> <li>Vitreous cells</li> <li><a>White cuffing </a>around retinal vessels </li> <li><a>Afferent pupil defect</a></li> <li><a>Papilledema</a> (from dural venous sinus thrombosis)</li> <li>Altered mental status, focal neurologic findings</li></ul>

Question 13

Behçet Disease. What else looks like it?

Answer 13

<ul> <li><a>Anterior uveitis</a> associated with other systemic diseases</li> <li><a>Retinal vasculitis</a> associated with connective tissue diseases</li> <li><a>Sarcoidosis</a></li> <li>Other vasculitides, infections, cancer</li> </ul>

Question 14

Behçet Disease. How do you manage it?

Answer 14

<ul> <li>Refer urgently to ophthalmologist any patient with diagnosis of Behçet disease who has newly blurred vision </li> <li>Refer non-urgently any patient without visual symptoms in whom Behçet disease is suspected in order to help confirm diagnosis and detect manifestations of mild ophthalmic involvement</li> </ul>

Question 15

Behçet Disease. What will happen?

Answer 15

<ul> <li>Diagnosis depends on combination of characteristic clinical features, exclusion of other diseases, and pathergy test, but...</li> <li>Diagnosis always remains presumptive as clinical features, laboratory tests, pathology not specific</li> <li>Treatment involves immune suppressants, including corticosteroids, cyclosporine, mycophenolate, azathioprine, cyclophosphamide, tumor necrosis factor inhibitors</li> <li>Outcomes depend on severity of manifestations and promptness of diagnosis</li> </ul>

Question 16

Candidiasis. What is it?

Answer 16

<ul> <li>Systemic infection with Candida fungal organisms </li> <li>Settings are sepsis, chronic parenteral hyperalimentation, hemodialysis, major surgery, burns </li> <li>Retinal infection rare but vision-threatening </li> </ul>

Question 17

Candidiasis. How does it appear?

Answer 17

<ul> <li>Patient may report impaired vision if able to communicate </li> <li>Ophthalmoscopy discloses <a>yellow-white mass</a> based in retina but spreading into vitreous cavity </li> <li>Looks like "headlight in fog"</li> </ul>

Question 18

Candidiasis. What else looks like it?

Answer 18

<ul><li>Vitreous hemorrhage</li> <li>Posterior uveitis </li> <li>Proliferative diabetic retinopathy</li> <li> Bacterial retinitis or endophthalmitis </li><li>Other fungal retinitis </li> <li>Ocular trauma </li> </ul>

Question 19

Candidiasis. How do you manage it?

Answer 19

<ul><li>Consult ophthalmologist to rule out intraocular spread, especially if patient reports vision impairment or cannot communicate</li> </ul>

Question 20

Candidiasis. What will happen?

Answer 20

<ul><li>In patients with candida organisms recovered from blood cultures or urine, but no evidence of systemic infection, ophthalmologic examination rarely discloses intraocular infection </li> <li>If ophthalmoscopy discloses findings suggestive of intraocular candida infection, vitreous will be aspirated for smear and culture </li> <li>Intravitreal injection of anti-fungal agent often performed </li> <li>Vitrectomy may also be necessary to preserve vision </li> <li>Visual salvage depends on extent of infection at discovery </li> </ul>

Question 21

Congenital Rubella Syndrome. What is it?

Answer 21

<ul> <li>Infection of fetus exposed to maternal rubella during first trimester of pregnancy </li> <li>Retinopathy, microphthalmia (small eye), cataract, glaucoma, corneal opacification, or uveitis, present in over 70% of cases</li> </ul>

Question 22

Congenital Rubella Syndrome. How does it appear?

Answer 22

<ul> <li>Fine speckling of retina<strong> </strong>called "salt-and-pepper retinopathy" that does not impair vision</li> <li>Microphthalmia, cataract, glaucoma, corneal scar, and uveitis often impair vision</li> </ul>

Question 23

Congenital Rubella Syndrome. What else looks like it?

Answer 23

<ul> <li>Congenital syphilis </li> <li>Genetic disorders </li> <li><a>Deferoxamine toxicity</a></li> <li><a>Chloroquine or hydroxychloroquine toxicity</a></li> <li>Thioridazine toxicity</li></ul>

Question 24

Congenital Rubella Syndrome. How do you manage it?

Answer 24

<ul> <li>Refer baby with microphthalmia, cataract, glaucoma, corneal scar, uveitis, or retinopathy to ophthalmologist urgently </li> </ul>

Question 25

Congenital Rubella Syndrome. What will happen?

Answer 25

<ul> <li>Cataract, glaucoma, corneal scar, uveitis may require treatment to preserve or restore vision</li> <li>Retinopathy rarely requires treatment and typically remains stationary </li> </ul>

Question 26

Cytomegalovirus Infection. What is it?

Answer 26

<ul> <li>Systemic infection with cytomegalovirus</li> <li>May cause necrotizing retinitis as virus invades vascular endothelium</li> <li>At risk are immune-compromised patients and infants of HIV/AIDS-infected mothers </li> <li>Systemic and intravitreal antiviral treatment effective if given early</li> </ul>

Question 27

Cytomegalovirus Infection. How does it appear?

Answer 27

<ul> <li>One or more <a>cotton wool spots</a> earliest sign </li> <li>As disease advances, cotton wool spots joined by retinal <a>infiltrates</a>, <a>hemorrhages</a></li> <li>May start in retinal periphery and spread posteriorly </li> <li>Infection can <a>destroy retina</a> within days to weeks </li> </ul>

Question 28

Cytomegalovirus Infection. What else looks like it?

Answer 28

<ul> <li>Herpes simplex and herpes zoster retinitis</li> <li><a>Toxoplasma retinitis</a></li> <li><a>Candida retinitis</a></li> <li><a>Systemic hypertension</a></li> <li><a>Diabetes</a></li> <li><a>Connective tissue diseases</a></li> <li><a>Blood dyscrasias</a></li> </ul>

Question 29

Cytomegalovirus Infection. How do you manage it?

Answer 29

<ul> <li>Refer immune-compromised patients with visual symptoms, low CD4, high CMV viral loads, or cotton wool spots promptly to ophthalmologist</li> <li>Refer babies whose mothers have HIV/AIDS to ophthalmologist </li> </ul>

Question 30

Cytomegalovirus Infection. What will happen?

Answer 30

<ul> <li>Immune reconstitution with highly active anti-retroviral therapy will be aimed at keeping CD4 count above 100/mm3</li> <li>Direct treatment options include ganciclovir, valganciclovir, foscarnet, cidofovir, and fomivirsen given systemically or intravitreally </li> <li>If started early enough, these treatments arrest infection and preserve vision </li> </ul>

Question 31

Diabetes Mellitus. What is it?

Answer 31

<ul> <li>Systemic disorder marked by elevated blood sugar</li> <li>Type 1 (onset in youth) autoimmune insulin deficiency</li> <li>Type 2 (onset in adulthood) insulin resistance</li> <li>Major cause of visual impairment, because...</li> <li>Retinal blood vessels leak to cause macular edema, and...</li> <li>Retinal blood vessels occlude to cause retinal ischemia, neovascular and fibrovascular proliferation, vitreous hemorrhage, retinal detachment</li><li>Vision-reducing diabetic macular edema present in 10% within 15 years of diagnosis</li> <li>Nonproliferative retinopathy present in 25% within 15 years of diagnosis</li></ul>

Question 32

Diabetes Mellitus. How does it appear?

Answer 32

<ul> <li>Microaneurysms, dot-blot hemorrhages, hard exudates in earliest stage (<a>"non-proliferative" or "background" retinopathy</a>), reflecting leakage from incompetent pre-capillary arterioles </li> <li>New retinal blood vessels in more advanced stage ("<a>neovascular proliferative retinopathy</a>"), reflecting chronic retinal ischemia</li> <li>Pre-retinal fibrovascular stalk in most advanced stage ("<a>fibrovascular proliferative retinopathy</a>"), reflecting severe retinal ischemia</li> </ul>

Question 33

Diabetes Mellitus. What else looks like it?

Answer 33

<ul><li><a>Other yellow-white things in retina</a></li> <li><a>Hemorrhages</a> of systemic hypertension, blood dyscrasias, radiation, connective tissue disorders, conditions that cause microvascular incompetence</li><li>Microaneurysms unique to diabetes mellitus, but difficult to see without special instruments</li> <li>Neovascularization distinguished from normal vascularization by their weblike density</li> <li>Fibrovascular proliferation after eye trauma, retinal detachment </li> </ul>

Question 34

Diabetes Mellitus. How do you manage it?

Answer 34

<ul><li>Refer patient with new visual loss with urgency depending on acuteness of visual symptoms</li> <li>Refer patients without visual symptoms to ophthalmologist non-urgently at time of diagnosis</li> </ul>

Question 35

Diabetes Mellitus. What will happen?

Answer 35

<ul> <li>Critical preventive measures: tight control of blood sugar, blood pressure, lipids</li> <li>Grid laser photocoagulation treats macular edema</li><li>Intravitreal injection of corticosteroids or anti-vascular endothelial growth factors (anti-VEGF) treats neovascular retinopathy </li> <li><a>Pan-retinal photocoagulation</a> also treats neovascular retinopathy, often causing impressive regression of new vessels</li> <li>Vitrectomy treats advanced fibrovascular proliferative retinopathy</li> <li>Masked trials found that these treatments stabilize and sometimes reverse vision loss if applied early</li></ul>

Question 36

Giant Cell Arteritis. What is it?

Answer 36

<ul> <li>Autoimmune inflammation of medium-sized arteries, especially branches of external carotid artery</li> <li> Affects those aged 60 years and older </li> <li> May be severe form of polymyalgia rheumatica </li> <li>Causes headache, joint and muscle aches, scalp tenderness, jaw claudication, fatigue, appetite loss</li><li>Elevated erythrocyte sedimentation rate and C-reactive protein </li> <li> Chief concern is arteritic ischemic optic neuropathy causing irreversible blinding infarction of optic disc in one or both eyes </li> </ul>

Question 37

Giant Cell Arteritis. How does it appear?

Answer 37

<ul><li>Sudden painless loss of vision in one eye</li> <li>Similar process may affect other eye within hours to days </li><li>Visual loss often profound </li> <li><a>Afferent pupil defect</a>, and... </li> <li><a>Swollen optic disc</a> in affected eye(s) in 95% of cases </li> <li>In at least 80% of cases, patient reports one or more systemic features present for weeks to months </li> </ul>

Question 38

Giant Cell Arteritis. What else looks like it?

Answer 38

<ul> <li><a>Non-arteritic ischemic optic neuropathy</a>, but visual loss usually less severe, and patients lack systemic symptoms of giant cell arteritis</li> <li><a>Optic neuritis</a>, but usually in younger individuals</li> <li><a>Papilledema</a>, but usually present in both eyes and vision less affected</li></ul>

Question 39

Giant Cell Arteritis. How do you manage it?

Answer 39

<ul> <li>Refer emergently to ophthalmologist any elderly patient with sudden visual loss, even if there are no systemic features of giant cell arteritis</li> <li>Refer elderly patients for temporal artery biopsy if they have new head or neck manifestations that suggest giant cell arteritis and sedimentation rate and C-reactive protein are elevated </li> </ul>

Question 40

Giant Cell Arteritis. What will happen?

Answer 40

<ul><li>Patients with clinical evidence of optic disc infarction and clinical or serologic evidence to suggest giant cell arteritis will be treated immediately with intensive intravenous corticosteroid therapy</li><li> Intensive corticosteroid treatment may prevent further visual loss</li><li>Patients who have normal vision but systemic symptoms of polymyalgia rheumatic or giant cell arteritis will undergo testing of sedimentation rate and C-reactive protein, which will be elevated in at least 80% of cases with giant cell arteritis </li> <li>To sustain diagnosis of giant cell arteritis, temporal artery biopsy must show <a>thickening</a> of media and endothelium, often with <a>fragmentation</a> of internal elastic lamina and sometimes with granulomas filled with <a>Langerhans giant cells</a> (granulomatous inflammation) </li><li>Properly performed and interpreted, temporal artery biopsy of one side has sensitivity of at least 93% and specificity of nearly 100% for giant cell arteritis</li><li>If biopsy of one temporal artery is negative, biospy of other temporal artery is indicated in cases of high clinical suspicion</li><li>Biopsy of second temporal artery increases sensitivity by about 3%</li><li>Negative biopsy excludes diagnosis of giant cell arteritis, and... </li><li>Positive biopsy mandates continuous corticosteroid treatment for at least 1 year after diagnosis</li> </ul>

Question 41

Graves Disease. What is it?

Answer 41

<ul> <li>Autoimmune process that targets thyroid gland, orbital tissues</li> <li>Systemic manifestations include hyperthyroidism and hypothyroidism</li> <li>Serum markers include elevated thyroid-stimulating immunoglobulin</li> <li>Disease divided into active phase (inflammation) and inactive phase (scarring) </li> <li>Ophthalmic manifestations: lid retraction, lid lag, proptosis, conjunctival inflammation, tearing, ocular misalignment, optic neuropathy</li> </ul>

Question 42

Graves Disease. How does it appear?

Answer 42

<ul><li>Discomfort around eyes rather than pain </li> <li>Symptoms appear gradually and depend on which signs are present</li> <li>Lid retraction: lower border of upper lid does not reach top of cornea, so that some sclera shows</li> <li>Lig lag: upper lids do not keep pace with eyes on downward gaze, so that sclera shows until upper lids catch up</li> <li>Proptosis (exophthalmos): forward displacement of eye because of retrobulbar soft tissue swelling </li> <li>Conjunctival inflammation: diffuse congestion with dilated blood vessels and conjunctival swelling</li> <li>Tearing: because conjunctiva inflamed</li> <li>Ocular misalignment: extraocular muscles become inflamed and stiff, preventing full eye movement </li> <li>Optic neuropathy: extraocular muscles enlarge enough to compress optic nerve in posterior orbit</li> <li><a>Swollen extraocular muscles</a> apparent on orbital CT or MRI</li></ul>

Question 43

Graves Disease. What else looks like it?

Answer 43

<ul> <li><a>Orbital cellulitis</a>, but usually faster onset, unilateral, and no lid retraction</li> <li><a>Idiopathic orbital inflammation</a>, but usually more pain, more unilateral, and no lid retraction or lag</li> <li><a>Orbital tumor</a>, but usually unilateral, and no lid retraction or lag</li> <li><a>Carotid-cavernous arteriovenous fistula</a>, but superior ophthalmic vein dilated on imaging</li><li><a>Conjunctivitis</a> causes no proptosis, lid lag, or lid retraction</li><li><a>Contact dermatitis</a> affects only lids and surrounding facial skin</li><li><a>Stye</a> causes focal swelling and tenderness mainly affecting one lid</li><li><a>Dacryocystitis</a> causes focal swelling and tenderness of nasal portion of lower lid, where lacrimal sac lies</li><li> <a>Anterior uveitis</a> causes photophobia</li><li><a>Scleritis</a> usually causes focal conjunctival redness and more periocular pain </li></ul>

Question 44

Graves Disease. How do you manage it?

Answer 44

<ul> <li>Refer non-urgently to ophthalmologist </li> <li>Refer more urgently if patient expresses marked pain or vision loss</li> </ul>

Question 45

Graves Disease. What will happen?

Answer 45

<ul> <li>Regulation of thyroid function does not alter course of ophthalmic findings</li> <li>Head-of-bed elevation, topical decongestants treat mild conjunctival inflammation </li> <li>Short-term corticosteroids treat marked ocular discomfort, conjunctival inflammation, ocular misalignment </li> <li>Lubricants and moisture chambers treat severe proptosis with corneal exposure </li> <li>Orbital wall surgical decompression treats corneal exposure, optic neuropathy</li> <li>Spectacle prisms and extraocular muscle surgery treat ocular misalignment once disease enters inactive phase</li> <li>Lid-lowering surgery treats lid retraction </li> <li>Outcomes depend on severity of disease and timing of interventions</li> </ul>

Question 46

HIV / AIDS. What is it?

Answer 46

<ul><li>Infection with the human immunodeficiency virus (HIV) that may cause acquired immunodeficiency disease syndrome (AIDS)</li><li>Systemic manifestations based on immune reaction to virus and infections arising from immune-compromised state</li> <li>Most common ophthalmic manifestations: cotton wool spots ("HIV retinopathy") and retinal necrosis from cytomegalovirus, herpes simplex virus, or herpes zoster virus ("herpesvirus retinopathy")</li> <li>Less common ophthalmic manifestations: retinal, uveal, optic nerve infections from syphilis, toxoplasmosis, cryptococcosis </li> </ul>

Question 47

HIV / AIDS. How does it appear?

Answer 47

<ul> <li>Vision loss if lesions are large, lie near fovea, or in optic nerve</li> <li>Cotton wool spots, reflecting immune reaction to virus</li> <li>Retinal necrosis sometimes starting in periphery, reflecting herpesvirus infection</li> <li>Vitreous clouding from spread of retinal or uveal inflammation</li> <li>Optic neuropathy, with or without optic disc edema, reflecting infection by herpesviruses, syphilis, toxoplasma, cryptococcus, other organisms</li> </ul>

Question 48

HIV / AIDS. What else looks like it?

Answer 48

<ul><li>Cotton wool spots merely reflect retinal microvascular occlusive disease, caused by many other conditions</li> <li>In severe body trauma and pancreatitis, think of <a>Purtscher retinopathy</a></li><li>Retinal necrosis can be mimicked by uveitis, endophthalmitis</li></ul>

Question 49

HIV / AIDS. How do you manage it?

Answer 49

<ul> <li>Refer to ophthalmologist any patient with HIV/AIDS who has visual symptoms or low CD4 count or high viral load</li> </ul>

Question 50

HIV / AIDS. What will happen?

Answer 50

<ul> <li>Cotton wool spots usually disappear spontaneously, leaving behind tiny areas of retinal infarction not noticeable to patient unless very large or close to fovea</li> <li>If disease controlled, no further ophthalmic problems occur</li> <li>In severe disease, herpesvirus retinopathy may destroy retina within weeks, so...</li> <li>Intravitreal and systemic antiviral treatment are critical to halt disease</li> <li>Other infections must be diagnosed and treated appropriately to preserve vision</li> </ul>

Question 51

Horner Syndrome. What is it?

Answer 51

<ul> <li>Unilateral ptosis, miosis, and sometimes facial anhydrosis</li> <li>Interruption of sympathetic nervous system pathway anywhere between hypothalamus and eye</li> <li>May be isolated manifestation </li> <li>Main causes of acute isolated Horner syndrome: spontaneous or traumatic dissection of cervical carotid artery, neck/upper chest trauma from insertion of venous catheter </li> </ul>

Question 52

Horner Syndrome. How does it appear?

Answer 52

<ul><li>Droopy upper lid and small but reactive pupil on same side</li><li>Difference in pupil size between the two eyes (anisocoria) rarely greater than 2mm</li><li>Ptosis rarely greater than 2mm</li><li>Neck pain sometimes</li> </ul>

Question 53

Horner Syndrome. What else looks like it?

Answer 53

<ul><li>Ptosis from <a>myasthenia gravis</a>, trauma, or <a>third nerve palsy</a></li><li>Miosis from eye trauma or inflammation</li> </ul>

Question 54

Horner Syndrome. How do you manage it?

Answer 54

<ul> <li>Refer patient emergently to ophthalmologist or emergency room if you find upper lid ptosis and miosis, especially if acute and accompanied by new neck pain</li> <li>Refer patient non-emergently for chronic ptosis</li> </ul>

Question 55

Horner Syndrome. What will happen?

Answer 55

<ul> <li>Ophthalmologist will instill apraclonidine 0.5% or cocaine 10% into both eyes to confirm denervated iris of Horner syndrome</li> <li>Acute isolated Horner syndrome common after neck/upper chest surgery and after insertion of central venous catheter</li><li>Otherwise acute isolated Horner syndrome suggests <a>cervical carotid dissection</a> and chance for stroke</li> <li>Evaluation of <em>acute</em> isolated Horner syndrome includes emergent vascular imaging (CTA or MRA)</li> <li>If dissection confirmed, aspirin or anticoagulant will be prescribed</li> <li>Chronic isolated Horner syndrome may be caused by neck or paraspinal tumors, old neck/chest trauma, middle ear infection</li> <li>Evaluation of <em>chronic</em> isolated Horner syndrome includes neck and upper chest imaging (CT or MRI)</li> </ul>

Question 56

Leukemia. What is it?

Answer 56

<ul> <li>Neoplastic proliferation of white blood cells </li> <li>Four main types: acute and chronic myelogenous, acute and chronic lymphogenous</li> <li>Systemic manifestations include fever, fatigue, bleeding, lymph node and spleen enlargement </li> <li>Diagnosis based on blood count, blood smear, and bone marrow pathology</li> <li>Most common ophthalmic manifestation: retinal hemorrhages </li> </ul>

Question 57

Leukemia. How does it appear?

Answer 57

<ul> <li><a>Retinal hemorrhages</a></li><li>Occur when platelet count drops to 20,000 or below</li> <li>Retinal artery or vein occlusions occur if total leukocyte count is 100,000 or above</li> </ul>

Question 58

Leukemia. What else looks like it?

Answer 58

<ul> <li>Other blood dyscrasias </li> <li>Diabetes mellitus, but more hard exudates</li> <li>Systemic hypertension, connective tissue disorders, vasculitis</li></ul>

Question 59

Leukemia. How do you manage it?

Answer 59

<ul> <li>Refer urgently any patient with new vision loss and known leukemia or other blood dyscrasia</li> </ul>

Question 60

Leukemia. What will happen?

Answer 60

<ul> <li>Retinal changes will resolve spontaneously if blood counts improve</li> <li>White cell counts above 100,000 can lead to slowed blood flow ("leukostasis") and occlusion of large retinal vessels with permanent vision loss</li> </ul>

Question 61

Lupus Erythematosus. What is it?

Answer 61

<ul> <li>Autoimmune disorder targeting blood cells and many organs </li> <li>Systemic manifestations: fatigue, fever, joint aches, confusion, butterfly rash on cheeks, chest pain, Raynaud phenomenon</li> <li>Ophthalmic manifestations: cotton wool spots, flame-shaped hemorrhages, and retinal infarctions, reflecting occlusions of small retinal arteries </li> </ul>

Question 62

Lupus Erythematosus. How does it appear?

Answer 62

<ul><li>No vision loss unless retinal abnormalities are large or occur near fovea</li> <li><a>Cotton wool spots</a>: white blotches on retinal surface that obscure underlying retina</li> <li><a>Flame-shaped hemorrhages</a>: slender red smears on retinal surface</li> <li><a>Retinal arteriolar occlusions</a>: areas of gray turbidity</li> </ul>

Question 63

Lupus Erythematosus. What else looks like it?

Answer 63

<ul> <li><a>Other connective tissue diseases</a></li> <li><a>Systemic hypertension</a></li> <li><a>Blood dyscrasias</a></li> <li><a>Vasculitis</a></li> <li><a>Purtscher retinopathy</a></li> </ul>

Question 64

Lupus Erythematosus. How do you manage it?

Answer 64

<ul><li>Refer patients with visual loss and lupus urgently to ophthalmologist</li><li>Refer patients without visual symptoms who have established diagnosis of lupus erythematosus or other rheumatologic disorder non-urgently to ophthalmologist to assess activity of disease</li></ul>

Question 65

Lupus Erythematosus. What will happen?

Answer 65

<ul> <li>Retinal abnormalities resolve spontaneously if disease activity controlled</li> <li>No vision loss unless large retinal areas have been infarcted</li> </ul>

Question 66

Marfan Syndrome. What is it?

Answer 66

<ul> <li>Autosomal dominant disorder marked by tallness and long limbs</li> <li>Caused by mutation in FBN1 gene responsible for elastic fiber strength</li> <li>Chief concern: heart valve degeneration, aortic aneurysm, aortic dissection</li> <li>Principal ophthalmic manifestation: dislocated crystalline lens ("ectopia lentis") </li></ul>

Question 67

Marfan Syndrome. How does it appear?

Answer 67

<ul> <li><a>Dislocated crystalline lens</a> in 80% of cases</li> <li>Usually dislocated superotemporally</li> <li>Dislocation visible only with slit lamp biomicroscopy through dilated pupil, which shows...</li> <li><a>Exposed lens zonules</a>: elastic fibers extending radially toward the lens margin and suspending the lens from the ciliary muscle like a hammock </li> </ul>

Question 68

Marfan Syndrome. What else looks like it?

Answer 68

<ul> <li>Direct trauma to eye, which can cause lens dislocation</li> <li>Homocystinuria, but lens dislocation is inferonasal </li> </ul>

Question 69

Marfan Syndrome. How do you manage it?

Answer 69

<ul> <li>Refer patients with suspected Marfan syndrome for ophthalmological examination</li> </ul>

Question 70

Marfan Syndrome. What will happen?

Answer 70

<ul> <li>Marked lens dislocation may create blurred vision, so that...</li> <li>Lens extraction necessary if optical measures do not work </li> <li>Retinal detachment and glaucoma may occur independently of lens dislocation</li> </ul>

Question 71

Migraine. What is it?

Answer 71

<ul> <li>Episodic headache often preceded by neurologic manifestation called "aura" </li> <li>Most common aura: sparkling zigzag that migrates across visual hemifield and obscures it ("scintillating scotoma") </li> </ul>

Question 72

Migraine. How does it appear?

Answer 72

<ul> <li><a>Visual aura</a> starts as tiny scotoma appearing to both eyes adjacent to fixation </li> <li>Scotoma enlarges across one hemifield with sparkling leading edge, blocking vision as it goes</li> <li>Visual episode lasts 20 to 30 minutes</li> <li>Headache, fatigue, nausea, mild confusion follow visual aura and last for hours to days</li> <li>Visual aura may occur without other manifestations ("acephalgic migraine"), especially after age 50</li> </ul>

Question 73

Migraine. What else looks like it?

Answer 73

<ul> <li>Posterior circulation (vertebrobasilar) transient ischemic attack (TIA), but episode lasts seconds to minutes and scotoma does not migrate</li> <li>Occipital lobe seizure, but duration of visual symptoms very variable and scotoma does not migrate</li> <li>Vitreoretinal tug, but visual symptom is non-migrating flash lasting less than second</li> <li>Retinal or optic nerve disorders, but visual symptom usually <a>flickering lights</a></li> </ul>

Question 74

Migraine. How do you manage it?

Answer 74

<ul> <li>Consider alternative diagnoses if symptoms do not match migraine perfectly </li> <li>Refer to ophthalmologist, who may refer patient to neurologist or internist, depending on findings</li> <li>Advise patients with migraine and visual aura to avoid smoking and oral contraceptives, which increase risk of migrainous stroke</li> <li>Recognize difficulty of excluding TIA or seizure, which are potentially life-threatening</li> </ul>

Question 75

Migraine. What will happen?

Answer 75

<ul><li>Migraine may be disruptive if attacks frequent and painful, requiring medication</li></ul>

Question 76

Myotonic Dystrophy. What is it?

Answer 76

<ul> <li>Autosomal dominant muscular disorder</li> <li>Based on abnormal repetition of DNA trinucleotide segments </li> <li>Causes muscle weakness and wasting in arms, legs, neck, face</li> <li>Chief concern: life-threatening cardiac conduction defects </li> <li>Most common ophthalmic manifestations: cataract, pigmentary retinopathy, ptosis, eye movement deficits</li> </ul>

Question 77

Myotonic Dystrophy. How does it appear?

Answer 77

<ul> <li>Spoke-like cataract resembling <a>Christmas tree branches</a> present in nearly 100% of cases</li> <li>Pigmentary retinopathy with <a>macular ring-like ("bull's-eye") depigmentation</a> and a peripheral salt-and-pepper dusting common but mild, so that... </li> <li>Minimally reduces visual acuity and night vision</li> <li><a>Bilateral symmetrical ptosis</a> and reduced eye movements usually subtle and minimally symptomatic</li></ul>

Question 78

Myotonic Dystrophy. What else looks like it?

Answer 78

<ul> <li>Many systemic conditions cause cataract, but Christmas tree branching is distinctive</li> <li>Pigmentary retinopathy occurs in many systemic conditions </li> <li>Ptosis and reduced eye movements occur in many neurologic diseases</li> </ul>

Question 79

Myotonic Dystrophy. How do you manage it?

Answer 79

<ul><li>Refer patients suspected of having myotonic dystrophy to ophthalmologists because cataract, ptosis, or retinopathy may impair vision</li></ul>

Question 80

Myotonic Dystrophy. What will happen?

Answer 80

<ul> <li>Ophthalmic manifestations helpful in diagnosis and sometimes require intervention </li> </ul>

Question 81

Neurofibromatosis Type I . What is it?

Answer 81

<ul><li>Autosomal dominant disorder marked by tumors, cognitive deficits, and scoliosis</li> <li>Mutation in chromosome 17 responsible for control of cell division</li> <li>50% of cases familial, 50% sporadic</li> <li>Non-malignant growths on iris called Lisch nodules present in 100% of cases by age 20</li> <li>Optic nerve and chiasm gliomas ("juvenile pilocytic astrocytomas") present in 15% of cases</li> <li>Neurofibromas cause ptosis or proptosis</li> </ul>

Question 82

Neurofibromatosis Type I . How does it appear?

Answer 82

<ul> <li><a>Lisch nodules</a>: tan mounds on iris surface </li> <li>Present in 50% of cases by age 6 and 100% by age 20</li> <li>Hard to recognize without slit lamp biomicroscopy </li> <li>Do not affect vision</li> <li><a>Optic nerve gliomas</a> discovered incidentally on imaging or by causing impaired vision or proptosis</li> <li>Neurofibromas grow as lumps on lids or cause proptosis</li> <li>Sphenoid dysplasia may cause pulsating eye</li> <li>Trabecular meshwork dysplasia may cause glaucoma</li> </ul>

Question 83

Neurofibromatosis Type I . What else looks like it?

Answer 83

<ul><li><a>Iris nevi</a> mimic Lisch nodules, but are usually darker</li> <li>Optic nerve meningiomas or schwannomas mimic gliomas</li> <li>Many kinds of lid masses mimic neurofibromas </li> </ul>

Question 84

Neurofibromatosis Type I . How do you manage it?

Answer 84

<ul> <li>For suspected neurofibromatosis type 1, refer to ophthalmologist non-urgently for detection of Lisch nodules</li> <li>For impaired vision in patient with neurofibromatosis, refer to ophthalmologist non-urgently to rule out optic glioma</li> <li>For lid mass or proptosis in patient with neurofibromatosis, refer to ophthalmologist to rule out neurofibroma</li> </ul>

Question 85

Neurofibromatosis Type I . What will happen?

Answer 85

<ul> <li>Lisch nodules valuable in diagnosis because highly specific and present in high proportion of cases</li> <li>Optic gliomas elicit treatment with chemotherapy if vision severely impaired or worsening, but...</li> <li>Spontaneous improvement in vision may occur, and...</li> <li>Efficacy of chemotherapy not rigorously verified </li> <li>Reversal of vision loss with treatment rare</li> <li>Neurofibromas treated by surgical excision, but...</li> <li>Complete excision is difficult and dangerous</li> <li>Open-angle glaucoma must be excluded </li> </ul>

Question 86

Pseudoxanthoma Elasticum. What is it?

Answer 86

<ul> <li>Autosomal recessive disorder causing degeneration of elastic tissue, especially in skin, blood vessels, eyes</li> <li>Causes tears in Bruch’s membrane, which lies between retina and choroid </li> <li>New blood vessels sometimes develop under fovea,bleed, and blind </li> </ul>

Question 87

Pseudoxanthoma Elasticum. How does it appear?

Answer 87

<ul> <li>Jagged red-orange streaks ("<a>angioid streaks</a>") radiating from optic disc </li> <li> Bleeding from new blood vessels under foveathat looks like <a>wet macular degeneration</a></li> </ul>

Question 88

Pseudoxanthoma Elasticum. What else looks like it?

Answer 88

<ul> <li>Angioid streaks also occur in Ehlers-Danlos syndrome, sickle cell anemia, and Paget disease </li> <li><a>High myopia</a></li> <li><a>Optic fundus in blonde subjects</a></li> </ul>

Question 89

Pseudoxanthoma Elasticum. How do you manage it?

Answer 89

<ul> <li>Refer all patients with pseudoxanthoma elasticum for periodic ophthalmologic examination to detect new blood vessels </li> <li>Warn patients to consult ophthalmologist immediately should they notice sudden blurring or warping of vision</li> <li>Advise wearing protective glasses and avoiding contact sports because trauma can worsen condition</li> </ul>

Question 90

Pseudoxanthoma Elasticum. What will happen?

Answer 90

<ul> <li>Treatments used in wet age-related macular degeneration often prevent severe vision loss</li></ul>

Question 91

Rheumatoid Arthritis. What is it?

Answer 91

<ul> <li>Autoimmune disorder causing inflammation and scarring of joints </li> <li>Principal ophthalmic manifestation in adults: dry eye syndrome ("keratitis sicca"), as tear-producing glands become damaged </li> <li>Principal ophthalmic manifestation in children: anterior uveitis</li> </ul>

Question 92

Rheumatoid Arthritis. How does it appear?

Answer 92

<ul> <li>Photophobia </li> <li>"It feels like there is sand in my eyes" ("foreign body" sensation) </li> <li>Corneal surface dry and without usual shine </li> <li>Areas of absent epithelium <a>stain green with instilled fluorescein dye</a> </li> <li>Paper strip placed in anesthetized conjunctival cul-de-sac (Schirmer test) shows less than 10mm of wetting after 5 minutes </li> <li>In severe rheumatoid arthritis, junction of cornea and sclera ulcerates ("<a>sclerokeratitis</a>")</li> <li>Children often report no symptoms </li> <li>Slit lamp examination of children shows low-grade anterior chamber inflammation, iris margin adhering to anterior lens capsule (<a>posterior synechia</a>), cataract, elevated intraocular pressure</li> </ul>

Question 93

Rheumatoid Arthritis. What else looks like it?

Answer 93

<ul> <li>Corneal inflammation, trauma, dystrophy, radiation, and exposure may cause epithelial fluorescein staining (superficial punctate keratopathy), but Schirmer test normal </li> <li>Dry eye syndrome common feature of graft versus host disease, erythema multiforme, cicatricial pemphigoid, vitamin A deficiency </li> <li>Anterior uveitis and sclerokeratitis may occur in isolation or in other connective tissue diseases; see <a>Connective Tissue Diseases</a></li> </ul>

Question 94

Rheumatoid Arthritis. How do you manage it?

Answer 94

<ul> <li>Refer patients suspected of rheumatoid arthritis or other connective tissue diseases to ophthalmologist because... </li> <li>Findings may help with systemic diagnosis and... </li> <li>Ophthalmic manifestations may require attention </li> </ul>

Question 95

Rheumatoid Arthritis. What will happen?

Answer 95

<ul> <li>Dry eye syndrome may lead to corneal scarring if not treated adequately </li> <li>Dry eye syndrome is treated with tear substitutes, topical corticosteroids and cyclosporine, punctal occlusion, moisture chambers, tarsorrhaphy </li> <li>Sclerokeratitis may lead to corneal perforation, endophthalmitis, loss of eye </li> <li>Anterior uveitis may lead to glaucoma and cataract</li> </ul>

Question 96

Sarcoidosis. What is it?

Answer 96

<ul><li>Idiopathic granulomatous inflammation of many organs</li><li>Most common ophthalmic manifestation: uveitis</li></ul>

Question 97

Sarcoidosis. How does it appear?

Answer 97

<ul><li>Photophobia, eye pain, although many patients have no ophthalmic symptoms because inflammation is indolent</li><li>Cells floating in aqueous and hazy slit-lamp beam as it traverses anterior chamber (flare), reflecting disruption of blood-aqueous barrier</li><li>Tiny opaque deposits on inner corneal surface ("<a>keratic precipitates</a>")</li><li>Adherence of iris to anterior lens surface ("<a>posterior synechiae</a>")</li><li>Vitreous cells </li><li><a>White cuffing</a> around retinal vessels</li><li>Gray-white choroidal nodules</li><li>Lacrimal gland enlargement </li><li>Conjunctival granulomas </li><li>Optic neuropathy </li><li><a>Third</a>, <a>fourth</a>, <a>sixth</a>, seventh cranial nerve palsies</li></ul>

Question 98

Sarcoidosis. What else looks like it?

Answer 98

<ul><li>Many other causes of granulomatous uveitis, including <a>connective tissue diseases</a>, systemic vasculitides, infections </li></ul>

Question 99

Sarcoidosis. How do you manage it?

Answer 99

<ul><li>Refer patient to ophthalmologist if diagnosis of sarcoidosis in question, as eye findings may be helpful in diagnosis yet not produce visual symptoms</li><li>Refer patient non-urgently to ophthalmologist for visual symptoms</li></ul>

Question 100

Sarcoidosis. What will happen?

Answer 100

<ul><li>Eye, surrounding tissues, and visual pathway involved in over 25% of sarcoidosis cases</li><li>Manifestations usually indolent but may cause severe and irreversible ophthalmic damage</li><li>Treatment involves topical, periocular, systemic corticosteroids and steroid-sparing immunomodulatory agents</li><li>Early diagnosis and treatment make a difference!</li><li>Conjunctival biopsy low diagnostic yield if conjunctiva appears normal</li></ul>

Question 101

Sickle Cell Disease. What is it?

Answer 101

<ul> <li>Inherited disorder in which red blood cells are deformed and clog small arteries</li> <li>Common systemic manifestations: episodes of arm, leg, back, and stomach pain</li> <li>Common ophthalmic manifestations: hemorrhagic arteriolar occlusions in peripheral retina</li> <li>Ophthalmic manifestations common in Sickle-Hemoglobin C Disease and Sickle-Thalassemia Disease, less common in Sickle Cell Disease, and rare in Sickle Cell Trait</li> <li>Feared ophthalmic complications: vitreous hemorrhage, retinal detachment</li> </ul>

Question 102

Sickle Cell Disease. How does it appear?

Answer 102

<ul> <li>Patient will not have visual symptoms unless retinal bleeding or detachment occurs</li> <li>Indirect ophthalmoscopy discloses <a>round orange patches in peripheral retina</a></li> </ul>

Question 103

Sickle Cell Disease. What else looks like it?

Answer 103

<ul> <li><a>Retinopathy of prematurity</a></li> <li>Posterior uveitis</li> <li><a>Diabetic retinopathy</a></li> <li><a>Von Hippel-Lindau disease</a></li> </ul>

Question 104

Sickle Cell Disease. How do you manage it?

Answer 104

<ul> <li>Refer any patient with Sickle-Hemoglobin C Disease or Sickle-Thalassemia Disease for baseline ophthalmologic examination</li> <li>Refer emergently patients with any variant of Sickle Cell Disease who suffer acute visual loss</li> </ul>

Question 105

Sickle Cell Disease. What will happen?

Answer 105

<ul> <li>Neglected retinopathy can lead to vitreous hemorrhage, retinal detachment, and blindness</li> <li>Laser photocoagulation can interrupt this cascade if applied early </li> </ul>

Question 106

Stevens-Johnson Syndrome. What is it?

Answer 106

<ul> <li>Hypersensitivity reaction to micro-organisms or medications (also called erythema multiforme, toxic epidermal necrolysis)</li> <li>Medications most commonly implicated: sulfonamides, anticonvulsants, salicylates, penicillin</li> <li>Vesiculobullous eruption on skin, mucous membranes</li> <li>Conjunctiva often involved, sometimes leading to scarring, dry eye, corneal clouding</li> <li>Early intensive lubrication, corticosteroid treatment, amniotic membrane grafts may preserve vision</li> </ul>

Question 107

Stevens-Johnson Syndrome. How does it appear?

Answer 107

<ul> <li>In acute phase, redness, swelling of conjunctiva, tearing, mucous discharge from both eyes</li> <li>In chronic phase, scarring and shortening of conjunctival fornix (<a>symblepharon</a>), drying and clouding of cornea</li> </ul>

Question 108

Stevens-Johnson Syndrome. What else looks like it?

Answer 108

<ul><li>Infectious conjunctivitis (especially <a>chlamydial</a>, including trachoma), but eruption chronic and confined to eyes</li> <li><a>Allergic conjunctivitis</a>, but manifestations more chronic</li> <li><a>Orbital cellulitis</a>, but inflammation more in tissues around eyes</li> <li><a>Episcleritis</a> and <a>scleritis</a>, but onset is slower</li> <li><a>Graves disease</a>, but proptosis and lid retraction usually evident</li> <li><a>Cavernous sinus arteriovenous fistula</a>, but findings confined to eyes</li> <li><a>Chronic cicatricial pemphigoid</a>, but manifestations more chronic</li> </ul>

Question 109

Stevens-Johnson Syndrome. How do you manage it?

Answer 109

<ul> <li>Refer urgently to ophthalmologist if eyes appear involved, as topical treatments will be necessary</li> </ul>

Question 110

Stevens-Johnson Syndrome. What will happen?

Answer 110

<ul> <li>Systemic corticosteroids usually prescribed</li> <li>Resolution of eye findings is common in mild cases, but...</li> <li>In severe cases, aggressive ophthalmic measures critical to preserve vision</li> </ul>

Question 111

Systemic Hypertension. What is it?

Answer 111

<ul> <li>Persistently elevated blood pressure with or without anti-hypertensive treatment </li> <li>In acute stage, principal ophthalmic manifestations: narrowed retinal arterioles, cotton wool spots, flame-shaped hemorrhages, retinal infarction, optic disc edema (reflecting vessel leakage, occlusion)</li> <li>In chronic stage, principal ophthalmic manifestations: arteriovenous nicking, copper-wiring and silver-wiring (reflecting thickened, stiff arteriolar walls)</li> </ul>

Question 112

Systemic Hypertension. How does it appear?

Answer 112

<ul> <li>No visual symptoms unless cotton wool spots or hemorrhages very numerous or large, or located at or near fovea</li> <li><a>Cotton wool spots</a>: feathery white patches in retinal surface layer that block view of underlying retina</li> <li><a>Flame-shaped hemorrhages</a>: slender red streaks in retinal surface layer that block view of underlying retina </li> <li><a>Retinal infarcts</a>: areas of gray turbidity </li><li><a>Choroidal infarcts</a>: areas of retinal pigment epithelial atrophy</li> <li><a>Optic disc edema</a>: elevated and blurred optic disc margins, reflecting leakage of optic disc capillaries; not seen unless retinal abnormalities are severe </li> <li><a>Arteriovenous nicking</a>: indentation and deflection of retinal veins as they cross stiff retinal arterioles</li> <li><a>Copper-wiring</a>: shift in color of retinal arterioles from red to orange, as walls thicken and stiffen </li> <li><a>Silver-wiring</a>: shift in color of retinal arterioles from red to white, as thickened wall obliterates blood column </li> </ul>

Question 113

Systemic Hypertension. What else looks like it?

Answer 113

<ul> <li><a>Diabetes mellitus</a>, but dot-blot hemorrhages and hard exudates more common</li> <li><a>Purtscher retinopathy</a>, but should have history of body trauma</li> <li>Blood dyscrasia, especially anemia (hemoglobin below 6 gm) and <a>thrombocytopenia</a></li> <li>Radiation therapy to region of eyes</li> <li><a>Connective tissue diseases</a>, including lupus erythematosus</li> <li>Systemic vasculitis</li> <li><a>Embolic retinopathy</a></li> </ul>

Question 114

Systemic Hypertension. How do you manage it?

Answer 114

<ul> <li>Refer patient with newly blurred vision in acute severe systemic hypertension urgently to ophthalmologist </li> <li>Refer patient without visual symptoms in acute or chronic systemic hypertension to ophthalmologist non-urgently to determine impact of hypertension on eyes as visible target organs</li> </ul>

Question 115

Systemic Hypertension. What will happen?

Answer 115

<ul> <li>If blood pressure is controlled, then...</li> <li>Hemorrhages spontaneously disappear within weeks</li> <li>Cotton wool spots disappear within weeks, leaving behind bothersome scotomas only if cotton wool spots were large or near fovea</li> <li>Optic disc edema disappears within weeks</li> <li>Retinal infarct turbidity disappears, leaving behind retinal atrophy and scotoma</li> </ul>

Question 116

Tay-Sachs Disease. What is it?

Answer 116

<ul> <li>Autosomal recessive disorder with deficiency of enzyme hexosaminidase A, which degrades ganglioside </li> <li>Ganglioside piles up in neurons, including retinal ganglion cells, causing cherry red spot</li> <li>Mental, physical, visual deterioration in infancy</li> <li>Death within 4 years of life </li> </ul>

Question 117

Tay-Sachs Disease. How does it appear?

Answer 117

<ul> <li>Progressively impaired vision but hard to recognize because of severe general disturbance of mental function</li> <li><a>Bright red ("cherry red") fovea</a> in both eyes, which arises because... </li> <li>Fovea has no ganglion cells, and is surrounded by milky halo of retinal ganglion cells stuffed with ganglioside </li> </ul>

Question 118

Tay-Sachs Disease. What else looks like it?

Answer 118

<ul> <li>Other lysosomal disorders, including generalized gangliosidosis (GM 1), Sandhoff disease, Gaucher disease, mucolipidosis Types 1 and 2, Niemann-Pick Type A, and multiple sulfatase deficiency, distinguished by lab tests </li> <li><a>Central retinal artery occlusion</a>, distinguished by not being found in infants, being rarely binocular, and causing acute vision loss</li> </ul>

Question 119

Tay-Sachs Disease. How do you manage it?

Answer 119

<ul> <li>Refer patient with suspected Tay-Sachs disease or other congenital metabolic disorders for ophthalmologic evaluation</li> </ul>

Question 120

Tay-Sachs Disease. What will happen?

Answer 120

<ul> <li>No effective treatment</li> <li>Progressive neurologic deterioration and death within 4 years of life</li> <li>Diagnosis important for prognosis, appropriate palliative care, genetic counseling </li> </ul>

Question 121

Thrombocytopenia. What is it?

Answer 121

<ul> <li>Low platelet count from many different causes </li> <li>Most common ophthalmic manifestion: retinal hemorrhages; occur commonly when platelet count falls below 20,000/mm3 </li> </ul>

Question 122

Thrombocytopenia. How does it appear?

Answer 122

<ul> <li>Patients have blurred vision if retinal hemorrhage located at fovea or notice dark spot if hemorrhage is near fovea </li> <li>Hemorrhages may be... </li> <li><a>Dot-blot</a> within retina </li> <li><a>Flame-shaped</a> in retinal surface nerve fiber layer </li> <li><a>Bubble-shaped or boat-shaped</a> between retina and vitreous </li> <li>White-centered ("<a>Roth spots</a>") </li> </ul>

Question 123

Thrombocytopenia. What else looks like it?

Answer 123

<ul><li>Many other conditions produce <a>retinal hemorrhages</a></li><li>Dot-blot hemorrhages common in <a>diabetes</a>, <a>hypertension</a></li> <li>Flame-shaped hemorrhages common in <a>hypertension</a></li> <li>Bubble-shaped or boat-shaped hemorrhages common in <a>abusive head trauma</a></li></ul>

Question 124

Thrombocytopenia. How do you manage it?

Answer 124

<ul> <li>Refer only if patient complains of visual symptoms </li> </ul>

Question 125

Thrombocytopenia. What will happen?

Answer 125

<ul> <li>Retinal hemorrhages resolve spontaneously within weeks, but may recur if platelet count remains low </li> <li>Vision usually recovers to normal as hemorrhage clears, but foveal hemorrhages may leave behind slightly distorted vision </li> <li>Transfusions to raise platelet count necessary only if visual loss is severe and persistent </li> </ul>

Question 126

Toxoplasmosis. What is it?

Answer 126

<ul> <li>Infection with obligate intracellular protozoan Toxoplasma gondii</li> <li>Infections occur in neonates via maternal transmission, or...</li> <li>In adults as reactivation of dormant organisms acquired in utero, or...</li> <li>As acquired infections through ingestion of poorly cooked meat or cat feces</li> <li>Patients with AIDS and other immune-compromising conditions most vulnerable</li> <li>Most common ophthalmic manifestation: focal retinitis</li> <li>Less common ophthalmic manifestation: <a>anterior uveitis</a></li> </ul>

Question 127

Toxoplasmosis. How does it appear?

Answer 127

<ul> <li><a>Yellow-white retinal infiltrate</a> often adjacent to chorioretinal scar, usually located in macular region</li> <li>Retinitis usually <a>reactivation</a> of adjacent healed <a>chorioretinal scar</a></li> <li>In neonates and immune-compromised patients, may see widespread necrotic retinopathy and focal brain lesions</li> </ul>

Question 128

Toxoplasmosis. What else looks like it?

Answer 128

<ul> <li>Chorioretinitis caused by herpes viruses, rubella, syphilis, toxocara canis, filarial worms, sarcoid, nocardia, candida</li> <li>Coats disease</li> <li>Vasculitis (including Behçet disease)</li> <li>Lymphoma</li> <li>Other <a>Yellow-White Things in Retina</a></li> </ul>

Question 129

Toxoplasmosis. How do you manage it?

Answer 129

<ul> <li>Refer neonates suspected of having TORCH infection to ophthalmologist </li> </ul>

Question 130

Toxoplasmosis. What will happen?

Answer 130

<ul> <li>Diagnosis based on appearance of retinal lesion and positive ELISA blood test</li> <li>Treatment includes systemic pyrimethamine, sulfadiazine, clindamycin, atovaquone, prednisone</li> <li>Treatment effective in eliminating active lesions, but...</li> <li>Permanent vision impairment common even in healed chorioretinitis if macular region has been involved</li> </ul>

Question 131

Trigeminal Herpes Zoster. What is it?

Answer 131

<ul> <li>Infection by herpes zoster of anterior scalp, forehead, upper lid, nose, eye (first trigeminal dermatome) </li> <li>Activation of dormant virus in trigeminal ganglion</li> <li>Occurs mostly over age 60 and in immune-compromised</li> <li>Ophthalmic manifestations: lid vesicles, conjunctivitis, keratitis, uveitis, optic neuropathy, ophthalmoplegia</li> <li>Eye involvement especially common if tip of nose has vesicles ("Hutchinson’s sign")</li> </ul>

Question 132

Trigeminal Herpes Zoster. How does it appear?

Answer 132

<ul> <li>Periocular and forehead pain often severe and first manifestation </li> <li>Forehead vesicles </li> <li>Lid vesicles, like skin vesicles, that quickly become encrusted</li> <li>Corneal surface erosions ("epithelial keratitis") and opacities ("stromal keratitis")</li> <li>Cells and flare evident in slit lamp beam in anterior uveitis</li> <li>Elevated or depressed intraocular pressure secondary to uveitis</li> <li>Vision loss with afferent pupil defect in optic neuropathy</li> <li>Reduced eye movement sometimes with ptosis and mydriasis in ocular motor cranial nerve palsy </li> </ul>

Question 133

Trigeminal Herpes Zoster. What else looks like it?

Answer 133

<ul> <li>Herpes simplex infection, but vesicles do not "respect" boundaries of trigeminal dermatome</li> <li>Impetigo (infected scratch or bite), but eye is spared</li> <li>Orbital infection or tumor, but skin is spared</li> </ul>

Question 134

Trigeminal Herpes Zoster. How do you manage it?

Answer 134

<ul> <li>Refer to ophthalmologist to rule out eye involvement even if patient has no visual symptoms</li> </ul>

Question 135

Trigeminal Herpes Zoster. What will happen?

Answer 135

<ul> <li>Diagnosis based on finding vesicular dermatomal rash</li> <li>Treatment of immune-competent patients: oral antiviral agent (acyclovir 800mg 5x daily for 7-10 days or equivalents) </li> <li>Treatment of disseminated zoster infection and of immune-compromised patients: intravenous acyclovir</li> <li>Treatment of anterior uveitis or stromal keratitis: topical corticosteroid</li> <li>Early antiviral treatment reduces likelihood of eye involvement and post-herpetic neuralgia </li> </ul>

Question 136

Tuberous Sclerosis Complex. What is it?

Answer 136

<ul> <li>Autosomal dominantly inherited disorder with defect in gene coding for proteins that suppress tumor growth</li> <li>Systemic manifestations: tumors in brain, kidneys, heart, lungs</li> <li>Most common ophthalmic manifestation: retinal astrocytic hamartoma</li> <li>Subependymal giant cell astrocytoma (SEGA) causes hydrocephalus visible in eyes as papilledema</li> </ul>

Question 137

Tuberous Sclerosis Complex. How does it appear?

Answer 137

<ul> <li>Discrete <a>tapioca-like mounds</a> or <a>white plaques on retinal surface</a></li> <li>Present in over 50% of cases</li> <li>Single or multiple</li> <li>Located near optic disc or remote from it </li> <li>Do not impair vision</li> <li><a>Papilledema</a> from hydrocephalus caused by <a>subependymal giant cell astrocytoma (SEGA)</a> obstructing foramen of Monro</li> </ul>

Question 138

Tuberous Sclerosis Complex. What else looks like it?

Answer 138

<ul><li><a>Other yellow-white things in retina</a></li> </ul>

Question 139

Tuberous Sclerosis Complex. How do you manage it?

Answer 139

<ul> <li>Refer patients suspected of having tuberous sclerosis complex for ophthalmoscopy because...</li> <li>Retinal astrocytic hamartomas among criteria for diagnosis, and...</li> <li>Papilledema indicates hydrocephalus caused by SEGA, and...</li> <li>Chronic papilledema may cause blindness unless high intracranial pressure relieved</li> </ul>

Question 140

Tuberous Sclerosis Complex. What will happen?

Answer 140

<ul> <li>Diagnosis based on fulfilling: <ul> <li>One major criterion-two or more retinal hamartomas, SEGA, facial angiofibroma, ungual fibroma, or...</li> <li>Two minor criteria-single retinal hamartoma, infantile spasms, hypopigmented skin macules, shagreen patch, bilateral renal angiomyolipomata or cysts, cardiac rhabdomyoma, first-degree relative with this condition</li> </ul></li><li>Treatment directed at clinical manifestations</li> <li>Patients with hydrocephalus may undergo surgical excision of SEGA and/or ventriculoperitoneal shunting</li> <li>Delayed diagnosis of hydrocephalus may worsen mental status, control of seizures, visual outcome</li> </ul>

Question 141

Visual Cortex Infarction. What is it?

Answer 141

<ul><li>Ischemic stroke of visual cortex</li><li>May be <a>unilateral</a> or <a>bilateral</a></li> <li>Caused by systemic hypotension, vertebrobasilar or cardiac embolism, hypercoagulability </li></ul>

Question 142

Visual Cortex Infarction. How does it appear?

Answer 142

<ul> <li>Acute loss of vision </li><li>Homonymous hemianopia, unilateral or bilateral </li> <li>Confrontation visual field testing may disclose these defects, but formal <a>visual field testing</a> more sensitive</li> <li>Visual acuity preserved if hemianopia unilateral, but often severely compromised if hemianopia bilateral </li> <li>Eye examination otherwise normal </li> <li>Brain CT shows occipital lucency within 48 hours of symptom onset </li> <li>Brain MRI diffusion-weighted sequence shows <a>unilateral</a> or <a>bilateral</a> occipital signal abnormality within 2 hours of symptom onset </li> </ul>

Question 143

Visual Cortex Infarction. What else looks like it?

Answer 143

<ul> <li><a>Psychogenic vision loss</a></li> </ul>

Question 144

Visual Cortex Infarction. How do you manage it?

Answer 144

<ul> <li>Refer patient urgently to ophthalmologist, who may refer to emergency room physician, neuro-ophthalmologist, internist, depending on findings </li> </ul>

Question 145

Visual Cortex Infarction. What will happen?

Answer 145

<ul> <li>If imaging discloses acute stroke, patient will be placed on anti-platelet agent and evaluated for embolic source or other cause </li> <li>Vision recovery usually limited and complete within 4 weeks of symptom onset </li> </ul>

Question 146

Von Hippel-Lindau Disease. What is it?

Answer 146

<ul> <li>Autosomal dominant disorder marked by proliferation of tumors</li> <li>Caused by mutation in tumor suppressor gene on chromosome 3</li> <li>80% familial, 20% sporadic</li> <li><a>Capillary hemangiomas of retina</a>, cerebellum, and spinal cord, and...</li> <li>Renal cell carcinoma and pheochromocytoma, and...</li> <li>Pancreatic cysts</li> </ul>

Question 147

Von Hippel-Lindau Disease. How does it appear?

Answer 147

<ul> <li><a>Yellow mound</a> in retinal periphery drained by <a>large draining vein</a></li> <li>Found in over 60% of patients </li> <li>Most lesions have not bled and therefore do not cause symptoms </li></ul>

Question 148

Von Hippel-Lindau Disease. What else looks like it?

Answer 148

<ul> <li>Many conditions cause yellow mounds in retina, but <a>large draining vein</a> is distinctive</li> </ul>

Question 149

Von Hippel-Lindau Disease. How do you manage it?

Answer 149

<ul><li>Refer any patient with suspected von Hippel-Lindau disease to ophthalmologist to search for retinal lesions</li> </ul>

Question 150

Von Hippel-Lindau Disease. What will happen?

Answer 150

<ul> <li>Some lesions will <a>bleed</a> and impair vision, so may need preventive treatment with...</li> <li>Laser <a>photocoagulation</a>, which destroys small lesions </li> <li>Cryotherapy applied to sclera, which destroys large lesions </li> <li>Patients with retinal hemangiomas have 25% chance of having other manifestations of von Hippel-Lindau disease </li> </ul>

Question 151

Wilson Disease. What is it?

Answer 151

<ul> <li>Autosomal recessive disorder with copper accumulation in liver, brain, cornea</li> <li>Major systemic manifestations: liver dysfunction and parkinsonism</li> <li>Main ophthalmic manifestation: <a>Kayser-Fleischer ring</a></li></ul>

Question 152

Wilson Disease. How does it appear?

Answer 152

<ul> <li>Subtle golden brown or greenish-brown <a>discoloration of corneal limbus</a></li> <li>Caused by copper accumulation in Descemet membrane deep within cornea</li> <li>Present in over 90% of cases with neurologic involvement but in less than 50% with liver involvement alone</li> <li>Best seen at top and bottom of cornea, but...</li> <li>Special instruments needed to identify it</li> <li>Multi-colored cataract with radiating spokes ("<a>sunflower cataract</a>") occurs in 20% of cases</li> </ul>

Question 153

Wilson Disease. What else looks like it?

Answer 153

<ul> <li>Primary biliary cirrhosis</li> <li>Intrahepatic cholestasis </li> <li>Biliary atresia </li> <li>Hepatocellular disorders, but... </li> <li>These non-Wilson diseases produce corneal rings only if total bilirubin rises acutely above 20 mg/dl</li> </ul>

Question 154

Wilson Disease. How do you manage it?

Answer 154

<ul> <li>Refer patient suspected of Wilson disease to ophthalmologist to check for Kayser-Fleischer corneal ring and sunflower cataract</li> </ul>

Question 155

Wilson Disease. What will happen?

Answer 155

<ul> <li>Diagnosis rests on finding Kayser-Fleischer ring, high urinary copper, low serum ceruloplasmin, low serum copper, and high copper on liver biopsy, but...</li> <li>Serum, urine, and biopsy results may not be definitive, so Kayser-Fleischer ring is critical finding </li> <li>Treatment with penicillamine, zinc, or ammonium tetrathiomolybdate most effective if started early </li> <li>Kayser-Fleischer ring disappears as tissue copper levels fall, but...</li> <li>Its disappearance does not mean that neurologic manifestations will reverse</li> </ul>