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systemic diseases and the eye

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systemic diseases and the eye Presented by Dr.Hussien Zienab Damascus - Teshreen hospital


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endocrine disorders and the eye


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foreword The eye is a mirror which reflect the health of other systems in the human body. The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves’ disease. Awareness of the associations between the ocular manifestations and endocrine disorders is the first step in the diagnosis and management of these complex patients.


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Pituitary gland


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Pituitary tumors Foreword: Pituitary tumors are benign growths of cells in the pituitary gland . Small tumors of the pituitary are very common and usually without symptoms, unless the tumor produces a hormone. However if the tumor enlarges,: it can cause hormonal deficiencies by pressing on the normal pituitary cells. If it grows even larger (> 1 cm), it can cause visual symptoms.


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Ocular symptoms: Depending on the size of a pituitary tumor, visual symptoms may include: • Blurred vision (in one or both eyes) • Loss of peripheral vision • Double vision


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A pituitary tumor can cause visual symptoms arising from : Pressure effects exerted on the optic nerves, chiasma, or tracts. Extension of the tumor into the cavernous sinus can lead to paresis of the third, fourth, or sixth nerves, causing disorders of extraocular movement.


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Double vision : Can occur when the normal eye movements are affected.


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Visual field defect in pituitary tumor: are caused by tumor compression on the optic nerve or chiasm. Depending on the size and location of the tumor. The severity and symmetry of the visual field defect may vary as well as the anatomical relationship of the chiasm to the pituitary stalk.


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Types of Visual field defect Monocular Visual Field Deficit. Chiasmal Field Deficit. Junctional Field Deficits.


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Monocular Visual Field Deficit: Asymmetric tumors may involve one side of the chiasm or an optic nerve, and most commonly presents as a supertemporal quadrantanopsia.


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Chiasmal Field Deficit: lesions at the level of the optic chiasm produce a bitemporal hemianopia. Pituitary adenomas, which grow upward from the pituitary stalk, compress the chiasm from below, which preferentially involves the inferior, nasal, and macular nerve fibers. This corresponds to superior, bitemporal, and central vision loss.


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Junctional Field Deficits: central scotoma in one eye with temporal visual field loss in the other eye . It caused by compression to an anterior loop to the decussating nasal fibers within the posterior optic nerve "Wilbrand's knee,"


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Diagnosis: The doctor will examine: • Visual acuity • Color vision • Peripheral vision . • Eye movements • The appearance of the retina and optic nerve .


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Papilledema is a rare finding in pituitary tumors. because of the slow –growing nature of these tumors which cause secondary optic atrophy before the tumor enlarges sufficiently to increase ICP.


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Treatment: may include: Surgery. Medications to shrink the tumor (depending on the type of tumor cells). Radiation treatment


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Treatments for double vision include: • Blocking the vision from one eye. • Prisms in eyeglasses. • Surgery on eye muscles to correct the alignment of the eyes.


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Prognosis: Visual loss : often improve after a pituitary tumor is treated. Or may be permanent if it has been present for a long time or is severe. Visual field: The pattern of recovery after decompression suggests at least three phases of improvement.


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The three phases of improvement : The early fast phase (surgery to 1 week) may lead to normalization in some individuals. The early slow phase (1-4 months) is the period of most notable improvement . A late phase (6 months to 3 years) of mild improvement doesn't appear significant over all but maybe marked in some individuals.


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the most common Hypothalmic –pituitary syndromes Septo-optic dysplasia (SOD). Kallman's syndrome. Empty sella syndrome. Oliver Mcfarlane syndrome.


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Septo-optic dysplasia (SOD): It is a rare congenital anomaly The classical triad of SOD includes: (i) optic nerve hypoplasia . (ii) pituitary hormone abnormalities. (iii) midline brain defects. Diagnosis of SOD can be made clinically when two or more features of the triad are present.


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Ocular manifestations: varying degrees of visual impairment. microphthalmia or anophthalmia. optic nerve dysplasia, or hypoplasia (wherein the optic nerve appears small and pale). Note...The presence of strabismus or nystagmus in a child at birth with multiple congenital abnormalities should alert an ophthalmologist to seek the opinion of an endocrinologist.


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Kallman's syndrome: A rare genetic disorder. It consists of : defective gonadotropin-releasing hormone synthesis. olfactory nerve agenesis or hypoplasia. Ocular manifestations: optic atrophy. color blindness. oculomotor abnormalities.


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Empty sella syndrome: Is defined as an intrasellar herniation of the suprasellar space with compression of the pituitary gland. Is classified as : Primary… caused by combination of: Incomplete diaphragma sella. An increased CSF fluid pressure. Secondary…when it discovers following pituitary radiation or pituitary surgery.


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Ocular manifestations: Diminished visual acuity . Visual field defects such as peripheral field constriction, bitemporal hemianopia, or quadrantanopia. Note…... Patients with secondary empty sella predominantly present with visual abnormality occurring due to arachnoidal adhesions and traction on the optic chiasma.


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Oliver Mcfarlane syndrome: It is an extremely rare condition associated with : chorioretinal degeneration, patients usually present with marked decrease in vision. Dwarfism with growth hormone deficiency. Hair abnormalities. Cerebellar dysfunction.


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Thyroid eye diseases Foreword: An autoimmune condition, which means that the body’s immune system mistakenly targets its own tissues. It occurs with : an overactive thyroid in : Grave’s disease. Toxic nodular goitre. Hypothyroidism, for example with Hashimoto’s disease.


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Graves’ disease Foreword: Autoimmune disease, in which immunoglobulins are directed against the TSH receptors on the thyroid cellular membrane. Most common form of thyrotoxicosis. May occur at any age but mostly from 20-40. Is a condition that predominantly affects females.


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Clinical features: I. Eye features. II. Goitre. III. Thyroid dermopathy (pretibial myxedema). IV. Heat intolerance. V. Cardiovascular. VI. Gastrointestinal. VII. Reproductive. VIII. Bone. IX. Neuromuscular. X. Skin.


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Eye features: Classes 0-6, mnemonic “NO SPECS” Class 0: No signs or symptoms. Class 1: Only signs (lid retraction, stare, lid lag), no symptoms. Class 2: Soft tissue involvement (periorbital edema, congestion or redness of the conjunctiva, and chemosis). Class 3: Proptosis . Class 4: Extraocular muscle involvement. Class 5: Corneal involvement. Class 6: Sight loss (optic nerve involvement).


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Lid lag in downgaz lid retraction


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Conjunctival hyperaemia periorbital and lid swelling proptosis chemosis


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Diagnosis: Low TSH, High FT4 and/or FT3. If eye signs are present, the diagnosis of Graves’ disease can be made without further tests. If eye signs are absent and the patient is hyperthyroid with or without a goitre, we need other tests for diagnosis (radioiodine, ………).


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Symptoms and signs influence the management strategy so we should assesse: The degree of exophthalmos (exophthalmometer). the intraocular pressure. Extraocular muscle thickness (CT, ultrasonography). The degree of optic nerve compression (electroretinogram, cortical visual evoked potentials, and color contrast sensitivity ).


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Treatment: Medical therapy. Surgical therapy. Radioactive iodine therapy.


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Management of opthalmopathy: Management involves cooperation between the endocrinologist and the opthalmologist. Keep head elevated at night to diminish periorbital edema. If the cornea is exposed, it is important to prescribe artificial tears as a means of corneal lubrication.


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For more severely affected eyes, immunosuppressive therapy with glucocorticoids benefit approximately 60% of patients with thyroid-associated opthalmopathy. If steroid therapy is not effective external x-ray therapy to the retrobulbar area may be helpful. If vision is threatened orbital decompression ( surgical) can be used.


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Hashimoto’s thyroiditis Is a common cause of hypothyroidism and goitre especially in children and young adults. It is an autoimmune disease . Hypothyroidism usually has an insidious onset : patients present with complaints of (lethargy, weight gain, dry and thickened skin ………………). Ophthalmologic features: periorbital swelling (part of the generalized nonpitting skin edema of myxedema). characteristic loss of the outer third of the eyebrow. open-angle glaucoma (deposition of a mucopolysaccharide within the trabecular meshwork).


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periorbital swelling loss of the outer third of the eyebrow.


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Parathyroid eye disease There are four parathyroid glands, which are located behind the thyroid.


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Hyperparathyroidism: Hyperparathyroidism may be subdivided into primary, secondary, tertiary, and pseudohyperparathyroidism. Hyperparathyroidism causes hypercalcemia can lead to ocular manifestations : calcification of the conjunctiva. calcified nodules of the eyelids. band keratopathy.


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Band keratopathy


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calcification of the conjunctiva.


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Hypoparathyroidism: Is usually the result of the accidental removal of the parathyroid glands during thyroidectomy, although it may be idiopathic in origin. The lack of parathyroid hormone produces a clinical state of hypocalcemia and hyperphosphatemia. The ocular response to hypocalcemia is: cataractogenesis: At presentation the lens develops subcapsular cataract. Which with progression, involves the lenticular cortex. chronic keratoconjunctivitis (especially in children with idiopathic Hypoparathyroidism ).


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subcapsular cataract chronic keratoconjunctivitis


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Adrenal eye disease Cushing's Syndrome: Excessive production of adrenocortical products. Ocular involvement is poorly defined and may include : Cataract (posterior subcapsular type) due to prolonged administration of steroids not a feature of endogenous steroid overproduction. elevation of intraocular pressure. hypertensive retinopathy. proptosis.


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Addison's Disease: Caused by insufficiency of the adrenal cortex. ocular manifestations: pigmentation involving the eyelids and conjunctiva. Papilledema caused by increased intracranial pressure.


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Neuroblastoma: Neuroblastomas arise from primitive neuroectodermal elements. Patients may present with an abdominal mass and, because most of these tumors secrete catecholamines. ocular manifestation : orbital metastatic can present with: proptosis. subconjunctival hemorrhage . ecchymosis of the eyelids. Horner's syndrome, usually associated with heterochromia iridis (less common ).


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ecchymosis of the eyelids heterochromia iridis


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Pheochromocytoma: This rare catecholamine-secreting tumor originates in chromaffin cells. The major ophthalmic feature of the condition is hypertensive retinopathy with: flame-shaped hemorrhages. cotton-wool spots. narrowed arteries. swollen optic discs.


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Gonadal Disorders: Turner syndrome: Turner syndrome is a condition in which there is an absence or structural abnormality of one X chromosome in phenotypic females. Ocular manifestations: strabismus ptosis hypertelorism. epicanthus. red–green color deficiency. Ocular hypertension and glaucoma.


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Klinefelter's syndrome: Is the most frequent form of sex chromosome aneuploidy. Ocular manifestations include: colobomas of the iris, choroid and optic nerve. microphthalmia. strabismus.


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