Patients with ocular symptoms and signs may signal serious underlyingsystemic disorders . In such cases , information obtained from an ocularexamination may aid in the diagnosis and management of the underlying ofsistemic disease . Some ocular findings are not specific , although certainfindings are more suggestive of one or more of the diseases than of theothers .
Ocular Manifestations are a feature of numeral congenital syndromes, including Down Syndrome , Marfan syndrome , myotonic dystrophy , tuberoussclerosis , metabolic disorders involving lysosomal storage and carbohydratemetabolism , and neurofibromatosis . An ocular examination may providekey findings in an effort to establish a definitive diagnosis . an exampleof this is neurofibromatosis.
Neurofibromatosis
Classical , or NF1 , neurofibromatosis is characterized by : 6 or morehyperpigmented skin macules ; 2 or more cutaneous neurofibromata or 1 plexiformneurofibroma ; melanocytic hamartromata of the iris ( Lish nodules ) ;multiple“freckles”in the intertriginous areas ; distinctive osseous lesions ; Gliomaof the anterior visual pathway ; patient history of a first - degree relativewith NF1 .
Ophthalmic manifestations of classical neurofibromatosis may commonlyinvolve the eyelid , iris , orbit , and optic nerve .The iris Lish nodesmay be one of the key signs in screening individuals .95% of the individualswith NF1 will have Lish nodules by the time they are 6 years old .
Hypertension
Systemic hypertension can affect the retinal , choroidal , and opticnerve circulations . A variety of retinal vascular changes can be seenin hypertensive patients ; these depend in part on the severity and durationof the hypertension .
Common hypertensive retinal changes are flame-shaped hemorrhages inthe superficial layers of the retina and cotton-wool patches caused byocclusion of the precapillary arterioles with isquemic infarction of thesuperficial retina .Longer-standing hypertension can produce arteriolarsclerotic vacuolar changes , such as copper or silver wiring of the arterioles. Another sign of chronic hypertension is lipid exudates resulting fromabnormal vascular permeability . The hallmark of malignant hypertensionis the swelling of the optic disc , which carries a poor prognosis if leftuntreated . The patient with malignant hypertension is at risk of developingheart and renal failure and hypertensive encephalopathy . The blood pressuremust be controlled immediately , but in a controlled , careful fashion, since a sudden drop in tissue perfusion can result in infarction of theoptic disc and subsequent blindness .
Intracranial Hypertension
The most common ocular manifestation of intracranial hypertension isoptic disc swelling , which in this condition is referred to as papilledema. The visual symptoms of papilledema are often mild or absent ; the mostcommon are transient visual obscurations , which can range from mild blurringto complete visual loss , usually lasting only a few seconds . Ophthalmoscopicallytypically reveals marked disk swelling and vascular engorgement .
Common causes of intracranial hypertension include brain tumor , meningitis, venous sinus thrombosis , hydrocephalus and the entity pseudotumor cerebri, or idiopathic intracranial hypertension . Disc edema can also be causedby conditions that are not associated with increased intracranial hypertension, such as sarcoidosis , syphilis , tumor and pseudo disc edema from causessuch as optic nerve head drusen .
Embolic Disease
Emboli to the Ophthalmic circulation can lodge in the Ophthalmic arteryor the central retinal artery , producing severe loss of vision that canbe transient or permanent . Sudden , persistent visual loss may be dueto occlusion of the central retinal artery and ophthalmoscopic examinationwill reveal narrowed retinal arterioles and a pale retina .
Emergency treatment should be directed to decreasing intraocular pressureand to vasodilatation in an attempt to allow the obstructing embolus topass into less critical , smaller caliber vessels. Management may includere breathing carbon dioxide , administering topical beta blockers , intravenousacetazolamide 500mg , intermittent , direct digital massage of the globethrough closed eyelids , and anterior chamber paracentesis .
Amaurosis Fugax
Emboli that temporally obstruct the Ophthalmic or central retinal arterymay produce sudden , severe , painless , transient loss of vision , calledamaurosis fugax .The attack usually lasts for a few minutes , and thenvision returns to normal as the embolus travels through the affected arteryor the focal vasoespasm resolves . The most common source of emboli isfibrin and cholesterol from ulcerated plaques in the wall of the carotidartery . The so-called Hollenhorst plaque is a cholesterol embolus thatlodges at an arterial bifurcation . Emboli of cardiac origin may come fromcalcified heart valves in patients with a history of rheumatic fever ,from an atrial myxoma , or from fibrin-platelet emboli in patients withvalve prolapse .
Central Retinal Vein Occlusion ( CRVO )
This vision loss may be mild to profound and is often due to macularedema .The onset of a CRVO is usually rapid . Ophthalmic examination willreveal retinal hemorrhages and cotton-wool spots . The findings of an afferentpupillary defect or neovascularization of the retina or iris characterizethe isquemic type of CRVO , which carries a poor prognosis . 50% of patientswho have a CRVO have open-angle glaucoma and/or systemic hypertension .
Certain autoimmune disorders such as connective tissue diseases , thyreoideye disease ,and myasthenia gravis, can initially present with ocular manifestationonly.
Connective tissue disorders have various ocular manifestations , themost common being tear deficiency leading to dry eyes , or keratoconjunctivitissicca .
Sjogren’s syndrome , the complex of dry eyes and dry mouth , may occurin isolation or in association with a connective tissue disorders .
Ankylosing Spondilitis
25% of patients with ankylosing Spondilitis have one or more attacksof iritis , which may precede the clinical arthritis . Patients typicallypresent with photophobia , redness , and decreased vision . Iritis usuallyresponds to treatment with corticosteroids and dilating agents .
Rheumatoid Arthritis
The eye is frequently involved in patients with rheumatoid arthritis, and the most common ocular problems are keratoconjunctivitis sicca andscleritis .
Episcleritis is inflammation of the superficial tissue overlying thesclera .Typically patients complain of mild to moderate pain and tenderness, and there is localized or diffuse redness of the eye .
Scleritis (inflammation of the sclera) may sometimes appear clinicallysimilar to episcleritis . However, severe , deep pain is a distinguishingfeature of scleritis .
Peripheral corneal ulceration is another manifestation of rheumatoidarthritis that may result in ocular perforation . Patients who developperipheral corneal ulceration or scleritis have an associated risk fordeveloping potentially lethal systemic vasculitis .
Juvenile Rheumatoid Arthritis (JRA)
Ocular manifestations in JRA typically occurs in patients with a mildform of the disease , the so-called pauci-articular form , and in patientswho are rheumatoid factor negative and ANA positive . Ocular complicationsmay occasionally be the presenting feature of this disease and do not correlatewith the severity or course of the systemic signs . The characteristictriad of late ocular complications in JRA consists of iritis , cataract, and band keratopathy , which consists of whitish deposits of calciumin the cornea .
Iritis or Iridociclitis can occur in up to 15% of patients with JRA, and is usually chronic , causing secondary cataract formation and glaucoma.
Systemic Lupus Erythematous (SLE)
Patients with SLE can have many of the same ocular manifestations associatedwith rheumatoid arthritis , such as dry eyes , scleritis , and peripheralcorneal ulceration . The most common severe manifestation of SLE , however, involve the vasculature of the retina and optic nerve .
Cotton-wool spots and retinal hemorrhages are the most frequently reportedfindings , but retinal edema , hard exudates , microaneurysms , arterialnarrowing , venous engorgement , and vascular tortuosity have also beennoted .
Retinal vascular occlusive disease is a potentially visually devastatingcomplication of SLE . Lupus vasculitis can also involve the optic nerve, resulting in isquemic optic neuropathy . Detection of retinal vasculitiscan also assist , in certain instances , in establishing the diagnosisof SLE . The precise pathophysiology underlying the vasculopathy of lupusin the eye is uncertain , but evidence points to a critical role for autoimmunemechanisms .
Polyarteritis or Periarteritis Nodosa
This condition is a widespread inflammatory disease affecting smalland medium size blood vessels , most commonly in middle-aged men . In additionto dry eyes , the ocular manifestations are peripheral corneal ulceration, scleritis , associated hypertensive retinopathy , and primary retinalvasculitis similar to that seen in patients with SLE .
Giant Cell (temporal) Arteritis
Giant Cell , or temporal , arteritis is a systemic vasculitis thatusually affects people over age 60 . Although almost any artery can beinvolved , this disease has a predilection for large and medium-size vessels, particularly the superficial temporal , Ophthalmic , and proximal portionof the vertebral arteries . The symptoms include headache , scalp tenderness, jaw pain and difficult in chewing , the polymyalgia rheumatica complex( myalgia , weight loss , anorexia , and fever of unknown origin ) , andacute visual loss . Palpation of the temporal artery may reveal tenderness, a lack of pulsations , and enlargement of nodular thickening of the vessel.
Ischemic optic neuropathy is the most common presentation of giant cellarteritis , it is associated with severe unilateral loss of vision , arelative afferent pupillary defect and a pale , swollen optic nerve head. Non-embolic central retinal artery occlusion with sudden and profoundloss of vision is the initial ocular presentation of giant cell arteritisin 10% of cases .
Cranial motor nerve paralysis is an Ophthalmic presentation of giantcell arteritis and it is due to nerve ischemia resulting from occlusionof the vascular supply of the nerve . Most commonly , the third cranialis affected , producing ptosis and outward deviation of the eye on theinvolved side with sparing of the pupil .
If giant cell arteritis is suspected , a erythrocyte sedimentation ratemust be obtained ,followed by a temporal artery biopsy . Fluorescein angiographycan reveal characteristic deficits in the choroidal circulation of theeye .
Giant cell arteritis usually affects the second eye in a matter of hoursor days if untreated . Therefore , this condition is considered an emergency, and treatment must be initiated empirically without waiting for the laboratoryresults .Therapy consists of high daily doses of systemic corticosteroids, which are gradually tapered according to serial sedimentation rates andthe patient’s symptoms ,both of which are monitored closely .
-Ocular Manifestations of Systemic Disease A Slide-Script ProgramAmerican Academy of Ophthalmology 1989 ,1996
-Retinal and Choroidal manifestations of Systemic Disease Copiright 1991Williams & Wilkins Baltimore , USA
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