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Description : Check out this medical presentation on Lacrimal Gland Tumor, which is titled "Systemic disease and the eye", to know about common systemic diseases affecting the eye.

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Published on : May 18, 2021 | Views : 2655 | Downloads : 6

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Systemic disease and the eye
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Common systemic diseases affecting the eye Infectious Toxoplasmosis Toxocariasis TB Syphilis Leprosy HIV CMV Non-infectious Endocrine – diabetes, thyroid Connective tissue disease – RA/ SLE/ Wegeners/ PAN/ Systemic sclerosis Vasculitides (GCA) Sarcoidosis Behcet’s Disease Vogt Koyanagi Harada syndrome Phakomatoses
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1. Soft tissue involvement Periorbital and lid swelling Conjunctival hyperaemia Chemosis Superior limbic keratoconjunctivitis 2. Eyelid retraction 3. Proptosis 4. Optic neuropathy 5. Restrictive myopathy THYROID EYE DISEASE
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Soft tissue involvement Periorbital and lid swelling Chemosis Conjunctival hyperaemia Superior limbic keratoconjunctivitis
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Signs of eyelid retraction Occurs in about 50% Bilateral lid retraction No associated proptosis Bilateral lid retraction Bilateral proptosis Lid lag in downgaze Unilateral lid retraction Unilateral proptosis
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Proptosis Treatment options Systemic steroids Radiotherapy Surgical decompression Occurs in about 50% Uninfluenced by treatment of hyperthyroidism Axial and permanent in about 70% May be associated with choroidal folds
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Optic neuropathy Occurs in about 5% Early defective colour vision Usually normal disc appearance Caused by optic nerve compression at orbital apex by enlarged recti Often occurs in absence of significant proptosis
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Occurs in about 40% Due to fibrotic contracture Restrictive myopathy Elevation defect - most common Abduction defect - less common Depression defect - uncommon Adduction defect - rare
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SARCOIDOSIS Idiopathic multisystem disorder Characterised by non-caseating granulomata More common in women 20-50 yrs More common in blacks and Asians ? Related to mycobacteria
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SARCOIDOSIS Systemic Involvement Lung lesions – 95% Thoracic lymph nodes – 50% Skin lesions – 30%  Eyes – 30%
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SARCOIDOSIS Ocular Involvement Anterior segment lesions (30%) Conjunctival granuloma Lacrimal gland involvement/dry eye Acute or chronic uveitis  KPs described as ‘mutton fat’ because they are large and greasy
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SARCOIDOSIS Ocular Involvement Posterior segment lesions (20%) Patchy venous sheathing Cellular infiltrate around vessels Chorioretinal granulonmas Vasculitis including occlusive causing:- Neovascularisation Infiltrate in vitreous (vitritis) including cell clumps (snowballs)
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SARCOIDOSIS Ocular Involvement Sheathing of the retinal veins Fluorescein angiography showing leakage and staining at sites of sheathing
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SARCOIDOSIS Granuloma in Fundus Retinal and pre-retinal Choroidal
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SARCOIDOSIS Granuloma in Fundus Optic nerve head granuloma Normal optic nerve head
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SARCOIDOSIS Systemic Signs Lupus pernio affecting the nose – a chronic progressive cutaneous sarcoid that most commonly affects face and ears
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SARCOIDOSIS Systemic signs Facial palsy Salivary gland enlargement
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SARCOIDOSIS Systemic signs Hilar adenopathy on chest x-ray Lung infiltrate Erythema nodosum Arthritis
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SARCOIDOSIS Investigations (1) CXR – to detect pulmonary signs Bilateral hilar lymph-adenopathy Pulmonary mottling
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SARCOIDOSIS Investigations (2) Serum angiotensin-converting enzyme (ACE) – elevated in active sarcoidosis Mantoux test – caution in patients who have had BCG vaccination. Test may be negative Lung function tests
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SARCOIDOSIS Investigations (3) Gallium scan showing increased uptake in the lacrimal and parotid glands and pulmonary regions in a patient with active sarcoidosis
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SARCOIDOSIS Treatment Systemic steroids may be necessary in patients with posterior segment disease where vision is threatened, especially if optic nerve is involved
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PHACOMATOSES 1. Neurofibromatosis 2. Tuberous sclerosis (Bourneville disease) 3. von-Hippel-Lindau syndrome 4. Sturge-Weber syndrome Type I (NF-1) - von Recklinghausen disease Type II (NF-2) - bilateral acoustic neuromas
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Neurofibromatosis type-1 - (NF-1) Appear during first year of life Café-au-lait spots Most common phacomatosis Increase in size and number throughout childhood Affects 1:4000 individuals Presents in childhood Gene localized to chromosome 17q11
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Fibroma molluscum in NF-1 Appear at puberty Pedunculated, flabby nodules consisting of neurofibromas or schwannomas Increase in number throughout life Usually widely distributed
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Plexiform neurofibroma in NF-1 May be associated with overgrowth of skin Appear during childhood Large and ill-defined
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Skeletal defects in NF-1 Mild head enlargement - uncommon Other - scoliosis, short stature, thinning of long bones Facial hemiatrophy
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Orbital lesions in NF-1 Spheno-orbital encephalocele Optic nerve glioma in 15% Sagittal MRI scan of optic nerve glioma invading hypothalamus Glioma may be uni or bilateral Axial CT scan of congenital absence of left greater wing of sphenoid bone Pulsating proptosis without bruit!
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Eyelid neurofibromas in NF-1 Nodular Plexiform May cause mechanical ptosis May be associated with glaucoma
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Intraocular lesions in NF-1 Lisch nodules Very common - eventually present in 95% of cases Congenital ectropion uveae Uncommon - may be associated with glaucoma Retinal astrocytomas Rare - identical to those seen In tuberous sclerosis Choroidal naevi Common - may be Multifocal and bilateral
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Ocular features of NF-2 Common - combined hamartomas of RPE and retina Very common - presenile cataract
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Tuberous sclerosis (Bourneville disease) Diffuse thickening over lumbar region Present in 40% Shagreen patches Autosomal dominant Triad - mental handicap, epilepsy, adenoma sebaceum Adenoma sebaceum Around nose and cheeks Appear after age 1 and slowly enlarge Ash leaf spots Hypopigmented skin patches In infants best detected using ultraviolet light (Wood’s lamp)
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Systemic hamartomas in tuberous sclerosis Astrocytic cerebral hamartomas Slow-growing periventricular tumours May cause hydrocephalus, epilepsy and mental retardation Usually asymptomatic and innocuous Kidneys (angiomyolipoma), heart (rhabdomyoma) Visceral and subungual hamartomas
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Retinal astrocytomas in tuberous scleritis Dense white tumour Mulberry-like tumour Early Innocuous tumour present in 50% of patients May be multiple and bilateral Semitranslucent nodule White plaque Advanced
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Systemic features of v-H-L syndrome Autosomal dominant Tumours - renal carcinoma and phaeochromocytoma Cysts - kidneys, liver, pancreas, epididymis, ovary and lungs Polycythaemia CNS Haemangioblastoma MRI-spinal cord tumour Angiogram of cerebellar tumour Visceral tumours
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Retinal capillary haemangioma in v-H-L syndrome Round orange-red mass Early Vision-threatening tumour present in 50% of patients May be multiple and bilateral Tiny lesion between arteriole and venuole Small red nodule Associated dilatation and tortuosity of feeder vessels Advanced
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Systemic features of Sturge-Weber syndrome Congenital, does not blanche with pressure Associated with ipsilateral glaucoma in 30% of cases Naevus flammeus CT scan showing left parietal haemangioma Complications –mental retard, epilepsy and hemiparesis Meningeal haemangioma
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Ocular features of Sturge-Weber syndrome Normal eye Buphthalmos in 60% May be associated with episcleral haemangioma Affected eye Diffuse choroidal haemangioma Glaucoma
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Peripheral corneal involvement in rheumatoid arthritis Chronic and asymptomatic Circumferential thinning with intact epithelium (‘contact lens cornea’) Acute and painful Circumferential ulceration and infiltration Treatment - systemic steroids and/or cytotoxic drugs Without inflammation With inflammation
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Peripheral corneal involvement in Wegener granulomatosis and polyarteritis nodosa Circumferential and central ulceration similar to Mooren ulcer Unlike Mooren ulcer sclera may also become involved Treatment - systemic steroids and cyclophosphamide
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Ocular manifestations of HIV infection
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Introduction AIDS is an infectious disease caused by the gradual decrease in CD4+ T lymphocytes causing subsequent opportunistic infections and neoplasia. It is a blood borne and sexually transmitted infection caused by the HIV (Human Immunodeficiency Virus) Approximately 36 million persons around the world are infected. Up to 70% of patients infected with HIV will develop some form of ocular involvement, ie: direct infection by HIV,opportunistic infections and neoplasia. HIV infection progresses though different phases
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Ophthalmic Manifestations of HIV Infection AROUND THE EYE Molluscum Contagiosum Herpes Zoster Ophthalmicus Kaposi’s Sarcoma Conjunctival Squamous Cell Carcinoma Trichomegaly FRONT OF THE EYE Dry Eye Anterior Uveitis BACK OF THE EYE Retinal Microvasculopathy CMV Retinitis Acute Retinal Necrosis Progressive Outer Retinal Necrosis Toxoplasmosis Retinochoroiditis Syphilis Retinitis Candida albicans endophthalmitis NEURO-OPHTHALMIC
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Molluscum Contagiosum Molluscum contagiosum is a viral infection of the skin. Affects up to 20% of symptomatic HIV infected patients. Clinically appears like painless, small, umbilicated nodules, which produce a waxy discharge when pressured. Treatment consists on excision of the lesion, curettage or cryotherapy
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Herpes Zoster Ophthalmicus Due to the reactivation of a latent infection by Varicella Zoster Virus in the dorsal root of trigeminal nerve ganglion. It manifests with a maculo-papulo-vesicular rash which often is preceded by pain. Usually involves the upper lid and does not cross the midline Treatment consists on oral Aciclovir 800mg 5 times /day. In immunocompromised patients Aciclovir is given intravenously for two weeks. Ocular manifestations such as anterior uveitis, are treated with topical steroids and mydriatics.
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Kaposi’s Sarcoma Kaposi’s sarcoma is a vascular neoplasm which is almost exclusively seen in patients with AIDS. KS is the commonest anterior segment lesion seen in AIDS; appears as a violaceous non-tender nodule on the eyelid or conjunctiva. Typically KS involves only the skin but when there is a reduced CD4 count it can progress rapidly to other sites such as the gastrointestinal tract and CNS Treatment of ocular adnexal KS may be necessary for cosmesis and to relieve functional difficulties. The mainstay of treatment is radiotherapy. Other options include cryotherapy or chemotherapy.
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Conjunctival Squamous Cell Carcinoma Squamous cell carcinoma (SCC) is the third most common neoplasm associated to HIV infection. This may be due to an interaction between HIV, sunlight and Human Papilloma Virus infection. SCC appears as a pink, gelatinous growth, usually in the interpalpebral area. Often an engorged blood vessel feeding the tumour is seen. It may extend onto the cornea, but deep invasion and metastasis are rare. The treatment of choice is local excision and cryotherapy but the presence of orbital invasion is an indication of exenteration
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Trichomegaly Trichomegaly or hypertrichosis is an exaggerated growth of the eye lashes found in the later stages of the disease The cause is not known When symptomatic or for cosmetic reasons the eyelashes can be trimmed or plucked
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Dry Eye Sicca syndrome is common with HIV infection Patients complain of burning uncomfortable red eyes. There are several causes of dry eye in HIV infection from blepharitis to destruction of the lacrimal glands. Treatment is with tear supplements
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Anterior Uveitis HIV related anterior uveitis can be: Direct manifestation of the HIV infection autoimmnune in origin drug induced ie: rifabutin, secondary to direct toxic effect upon the non-pigmented epithelium of the ciliary body. Any of the different infections associated with AIDS :- Herpes Zoster Virus, Herpes Simplex Virus, Cytomegalovirus, Toxoplasma gondii Syphilis
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Rifabutin induced anterior uveitis
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Retinal microvasculitis Retinal microvasculopathy occurs in more than half of the patients with HIV It is seen as transient cotton wool spots (CWS), intra-retinal haemorrhages and microaneurysm, Occurs in 50-70% of patients. It is usually asymptomatic. Unclear pathogenesis,but thought to be HIV infection of retinal vascular cells. Serological test for HIV will confirm the diagnosis. Treatment is based in delaying the progression of the disease associated with HIV.
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Cotton Wool Spots
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CMV Retinitis Introduction CMV Retinitis is the commonest intraocular ocular opportunistic infection seen in patients with AIDS Antibodies are found in almost 95% of adults, causing a trivial illness in immunocompetent adults, however severe immunosuppression causes viral reactivation and tissue invasive disease Pathogenesis Reactivation from extraocular sites leads to seeding in other sites such as the retina Epidemiology The number of newly diagnosed cases of CMVR has decreased since the introduction of the HAART Highly Active Antiretroviral Therapy
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CMV Retinitis Clinical manifestations Patients may complain of minor visual symptoms such as floaters, flashing lights or mild blurred vision, or be totally asymptomatic. It presents with a wide range of clinical appearances. From cotton wool spots which may look like HIV Retinopathy to confluent areas of full thickness retinal necrosis and vasculitis. CMVR can progress in a “brushfire” pattern from the active edge of an active lesion. The retinal vessels in an affected area show attenuation, becoming ghost vessels eventually. Treatment The treatment of CMVR in patients with AIDS requires the use of specific antiviral agents, ganciclovir, foscarnet or cidovir in conjunction with HAART. These treatments can be administered orally, intravenously or intravitreally. Systemic treatment has the advantage of treating infection elsewhere in the body as well as the other eye but has the disadvantages of systemic side effects. Intravitreal implants release the drug over a six-month period, achieving prolonged high intravitreal levelsof drug.
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CMV Retinitis
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Acute Retinal Necrosis ARN is a confluent peripheral whitening of the retina with marked vitritis and blood vessel closure. Optic neuritis and retinal detachment are frequent complications. ARN is usually due to Varicella-Zoster infection, but it can also be caused by Herpes Simplex virus or Cytomegalovirus. Initially described in the immunocompetent, it has also been described in the immunosuppressed. The diagnosis is mainly clinical and is confirmed by PCR assays on vitreous samples. Patients are treated with high doses of intravenous aciclovir or famciclovir, combined with laser treatment to prevent retinal detachment.
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Acute Retinal Necrosis
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Progressive Outer Retinal Necrosis (Varicella-Zoster Retinitis) PORN is a devastating viral retinitis caused by Varicella-Zoster virus, without vitritis or retinal vasculitis. The retinitis can be located anywhere but it is common for the lesions to coalesce and spread posteriorly in a rapid fashion. The main symptom is rapid loss of vision.The retina shows typically a white lesion with no haemorrhages or exudates. Treatment is often unsatisfactory (Ganciclovir and Aciclovir). The prognosis is very poor and retinal detachment is common. Resolution may leave a white plaque with the appearance of “cracked mud”.
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Toxoplasma Retinochoroiditis Toxoplasmosis retinochoroiditis is an uncommon infection of the eye in AIDS. Ocular toxoplasmosis in HIV positive patients is different in appearance from immunocompetent patients. HIV infected patients often have bilateral and multifocal disease associated with anterior uveitis and vitritis No pigmented scars adjacent to the areas of retinal necrosis. (unlike in immunocompetent patients) Retinochoroiditis is not self-limiting as it is in imunocompetent patients.
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Toxoplasma Retinochoroiditis When testing patients for antibodies to toxoplasmosis both IgG and IgM levels may be raised, but in immunocompromised patients these tests may be negative. Often associated with toxoplasma lesions in the Central Nervous System. Treatment in immunocompromised patients sulphadiazine or clindamycin +/- pyrimethamine and folinic acid (triple therapy). Long term maintenance to prevent relapses.
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MRI T1 showing an uniformly enhancing lesion in the midbrain One week later, the lesion showing ring enhancement
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Immunocompetent Immunocompromised
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Syphilis Retinitis There is a strong association between syphilis and HIV infection. It can manifest as a retinitis with dense vitritis, retinal vasculitis, serous retinal detachment or neuroretinitis, conjunctivitis, anterior uveitis, cranial nerve palsies and optic neuritis. Treatment high dose of intravenous Penicillin for 2 weeks.
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Candida albicans endophthalmitis Infection with candida albicans is rare. Candida albicans is the commonest cause of fungal endophthalmitis Affected patients usually have a history of drug abuse or indwelling central lines or immuno-compromised. In the initial stages, floaters are the main symptom. As the condition progresses, whitish “puff-balls” and vitreous strands develop (‘string of pearls’) The treatment depends on the severity of the ocular involvement and systemic disease. The original foci should be removed. The drugs of choice are Amphotericin B and Fluconazole
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Candida albicans endophthalmitis
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Glossary CD4: Director of the immune response. When activated it releases cytokines which in turn will activate the immune system Cotton Wool Spots: Light-coloured deposits in the retina secondary to infarcts of the nerve fibre layer HAART: Highly Active Antiretroviral Therapy Immunoblogulin: Protein in charge of fighting foreign substances in our body. IgG is the commonest type of immunoglobulin and IgM is the earliest class of immunoglobulin. PCR: Polymerase Chain Reaction is a technique used to make numerous copies of an specific portion of DNA VDRL: Venereal Disease Research Laboratory. The test becomes negative after successful treatment of the disease.
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