Associated eyes diseases

SYSTEMIC DISEASES SYSTEMIC DISEASES ASSOCIATED WITH ASSOCIATED WITH

THE EYETHE EYE

Presented by Presented by DR. ARMAAN SINGHDR. ARMAAN SINGH

ENDOCRINE DISORDERSENDOCRINE DISORDERSASSOCIATED THE EYEASSOCIATED THE EYE

FOREWORDFOREWORD

• The eye is a The eye is a mirrormirror which reflect the health of other systems in the human which reflect the health of other systems in the human

body.body.

• The human eye, as an organ, The human eye, as an organ, can offer critical clues to the can offer critical clues to the diagnosis diagnosis of various systemic illnesses.of various systemic illnesses.

• Ocular changes are common in various endocrine disorders such as Ocular changes are common in various endocrine disorders such as

diabetes mellitus and Graves’ disease.diabetes mellitus and Graves’ disease.

• Awareness of the associations between the ocular manifestations and Awareness of the associations between the ocular manifestations and

endocrine disorders is endocrine disorders is the first step in the diagnosis and the first step in the diagnosis and management of these complex patients.management of these complex patients.

PITUITARY GLANDPITUITARY GLAND

PITUITARY TUMORSPITUITARY TUMORS

Foreword:Foreword:• Pituitary tumors are Pituitary tumors are benign growths of cells benign growths of cells in the pituitary gland .in the pituitary gland .

• Small tumors of the pituitary are very common and usually without symptoms, Small tumors of the pituitary are very common and usually without symptoms, unless the tumor produces a hormone.unless the tumor produces a hormone.

• However if the tumor enlarges,:However if the tumor enlarges,:it can cause hormonal deficiencies by pressing on the normal pituitary it can cause hormonal deficiencies by pressing on the normal pituitary

cells.cells. If it grows even larger (> 1 cm), it can cause visual symptoms.If it grows even larger (> 1 cm), it can cause visual symptoms.

Ocular symptoms:Ocular symptoms:Depending on the sizeDepending on the size

of a pituitary tumor,of a pituitary tumor,

visual symptoms mayvisual symptoms may

include:include:

• • Blurred vision (in one or bothBlurred vision (in one or both

eyes)eyes)

• • Loss of peripheral visionLoss of peripheral vision

• • Double visionDouble vision

A pituitary tumor can cause visualA pituitary tumor can cause visual

symptoms arising from :symptoms arising from :

Pressure effects exerted on the opticPressure effects exerted on the optic

nerves, chiasma, or tracts.nerves, chiasma, or tracts.

Extension of the tumor into the Extension of the tumor into the

cavernous sinus can lead to paresiscavernous sinus can lead to paresis

of the third, fourth, or sixth nerves, of the third, fourth, or sixth nerves,

causing disorders of extraocular causing disorders of extraocular

movement.movement.

Double vision :Double vision :

Can occur when the normal eye Can occur when the normal eye

movements are affected.movements are affected.

Visual field defect in pituitaryVisual field defect in pituitary

tumor:tumor:• are caused by tumor compressionare caused by tumor compression

on the optic nerve or chiasm.on the optic nerve or chiasm.

• Depending on the Depending on the sizesize and and

location location of the tumor.of the tumor.

• The severity and symmetry of theThe severity and symmetry of the

visual field defect may vary as wellvisual field defect may vary as well

as the anatomical relationship of theas the anatomical relationship of the

chiasm to the pituitary stalk.chiasm to the pituitary stalk.

TYPES OF VISUAL FIELD DEFECTTYPES OF VISUAL FIELD DEFECT

Monocular Visual Field Deficit.Monocular Visual Field Deficit.

Chiasmal Field Deficit.Chiasmal Field Deficit.

Junctional Field Deficits.Junctional Field Deficits.

Monocular Visual Field Deficit:Monocular Visual Field Deficit:

• Asymmetric tumors may involveAsymmetric tumors may involve

one side of the chiasm or an opticone side of the chiasm or an optic

nerve, and most commonly presentsnerve, and most commonly presents

as a supertemporal quadrantanopsia.as a supertemporal quadrantanopsia.

Chiasmal Field Deficit:Chiasmal Field Deficit:

• lesions at the level of the optic lesions at the level of the optic

chiasm produce a bitemporal hemianopia.chiasm produce a bitemporal hemianopia.

• Pituitary adenomas, which growPituitary adenomas, which grow

upward from the pituitary stalk, upward from the pituitary stalk,

compress the chiasm from below, which compress the chiasm from below, which

preferentially involves the inferior, nasal,preferentially involves the inferior, nasal,

and macular nerve fibers. This correspondsand macular nerve fibers. This corresponds

to superior, bitemporal, and central vision loss.to superior, bitemporal, and central vision loss.

Junctional Field Deficits:Junctional Field Deficits:

• central scotoma in one eye withcentral scotoma in one eye with

temporal visual field loss in the other eye .temporal visual field loss in the other eye .

•It caused by compression to an anteriorIt caused by compression to an anterior

loop to the decussating nasal fibersloop to the decussating nasal fibers

within the posterior optic nervewithin the posterior optic nerve

"Wilbrand's knee,""Wilbrand's knee,"

Diagnosis:Diagnosis: The doctor will examine:The doctor will examine:

• • Visual acuityVisual acuity

• • Color visionColor vision

• • Peripheral vision .Peripheral vision .

• • Eye movementsEye movements

• • The appearance of theThe appearance of the

retina and optic nerve .retina and optic nerve .

Papilledema is a Papilledema is a rarerare finding in pituitary tumors. finding in pituitary tumors.

because of the slow –growing nature of these tumors which because of the slow –growing nature of these tumors which cause secondary optic atrophy before the tumor enlarges cause secondary optic atrophy before the tumor enlarges sufficiently to increase ICP.sufficiently to increase ICP.

Treatment: Treatment:

may include:may include:

Surgery.Surgery.

Medications to shrink theMedications to shrink the

tumor (depending on the typetumor (depending on the type

of tumor cells).of tumor cells).

Radiation treatmentRadiation treatment

Treatments for double visionTreatments for double vision

include:include:

• • Blocking the vision from one eye.Blocking the vision from one eye.

• • Prisms in eyeglasses.Prisms in eyeglasses.

• • Surgery on eye muscles to correctSurgery on eye muscles to correct

the alignment of the eyes.the alignment of the eyes.

Prognosis:Prognosis:• Visual loss :Visual loss :

often often improveimprove after a pituitary tumor is treated. after a pituitary tumor is treated.

Or may be Or may be permanentpermanent if it has been present for a long time or is if it has been present for a long time or is severe.severe.

• Visual field:Visual field: The pattern of recovery after decompression suggests at least three The pattern of recovery after decompression suggests at least three

phases of improvement.phases of improvement.

The three phases of improvement :The three phases of improvement :

TheThe early fast early fast phase (surgery to 1 week) may lead to normalization phase (surgery to 1 week) may lead to normalization in some individuals.in some individuals.

The The early slow early slow phase (1-4 months) is the period of most notable phase (1-4 months) is the period of most notable improvement .improvement .

A A latelate phase (6 months to 3 years) of mild improvement doesn't phase (6 months to 3 years) of mild improvement doesn't appear significant over all but maybe marked in some individuals.appear significant over all but maybe marked in some individuals.

the most common Hypothalmic –pituitary the most common Hypothalmic –pituitary syndromessyndromes

Septo-optic dysplasia (SOD).Septo-optic dysplasia (SOD).

Kallman's syndrome.Kallman's syndrome.

Empty sella syndrome.Empty sella syndrome.

Oliver Mcfarlane syndrome.Oliver Mcfarlane syndrome.

Septo-optic dysplasia (SOD):Septo-optic dysplasia (SOD): It is a rare congenital anomalyIt is a rare congenital anomaly

The classical triad of SOD includes:The classical triad of SOD includes:

(i) optic nerve hypoplasia .(i) optic nerve hypoplasia .

(ii) pituitary hormone abnormalities.(ii) pituitary hormone abnormalities.

(iii) midline brain defects.(iii) midline brain defects.

Diagnosis of SOD can be made clinicallyDiagnosis of SOD can be made clinically

when two or more features of the triad are present.when two or more features of the triad are present.

Ocular manifestations: Ocular manifestations:

• varying degrees of visual impairment.varying degrees of visual impairment.

• microphthalmia or anophthalmia.microphthalmia or anophthalmia.

• optic nerve dysplasia, or hypoplasia (wherein the optic nerve optic nerve dysplasia, or hypoplasia (wherein the optic nerve appears small and pale).appears small and pale).

NNoteote...The presence of strabismus or nystagmus in a child at ...The presence of strabismus or nystagmus in a child at

birth with multiple congenital abnormalities should alert an birth with multiple congenital abnormalities should alert an ophthalmologist to seek the opinion of an endocrinologist.ophthalmologist to seek the opinion of an endocrinologist.

Kallman's syndrome: Kallman's syndrome:

A rare genetic disorder.A rare genetic disorder.

It consists of :It consists of :defective gonadotropin-releasing hormone synthesis. defective gonadotropin-releasing hormone synthesis. olfactory nerve agenesis or hypoplasia.olfactory nerve agenesis or hypoplasia.

Ocular manifestations: Ocular manifestations: • optic atrophy.optic atrophy.• color blindness.color blindness.• oculomotor abnormalities.oculomotor abnormalities.

Empty sella syndrome: Empty sella syndrome:

Is defined as an intrasellar herniation of the suprasellar space with Is defined as an intrasellar herniation of the suprasellar space with compression of the pituitary gland.compression of the pituitary gland.

Is classified as :Is classified as :

PrimaryPrimary… caused by combination of:… caused by combination of:• Incomplete diaphragma sella.Incomplete diaphragma sella.

• An increased CSF fluid pressure.An increased CSF fluid pressure.

SecondarySecondary…when it discovers following pituitary radiation or …when it discovers following pituitary radiation or pituitary surgery.pituitary surgery.

Ocular manifestations:Ocular manifestations:

• Diminished visual acuity Diminished visual acuity ..

• Visual field defects Visual field defects such as peripheral field constriction, such as peripheral field constriction, bitemporal hemianopia, or quadrantanopia.bitemporal hemianopia, or quadrantanopia.

NNote…... Patients with secondary empty sella predominantly ote…... Patients with secondary empty sella predominantly

present with visual abnormality occurring due to arachnoidal present with visual abnormality occurring due to arachnoidal adhesions and traction on the optic chiasma. adhesions and traction on the optic chiasma.

Oliver Mcfarlane syndrome: Oliver Mcfarlane syndrome:

It is an extremely rare condition associated with :It is an extremely rare condition associated with :chorioretinal degenerationchorioretinal degeneration, patients usually present with marked , patients usually present with marked

decrease in vision. decrease in vision.

Dwarfism with growth hormone deficiency.Dwarfism with growth hormone deficiency.

Hair abnormalities.Hair abnormalities.

Cerebellar dysfunction.Cerebellar dysfunction.

THYROID EYE DISEASESTHYROID EYE DISEASES Foreword:Foreword:

An autoimmune conditionAn autoimmune condition, which means that the body’s immune , which means that the body’s immune system mistakenly targets its own tissues.system mistakenly targets its own tissues.

It occurs with :It occurs with : an overactive thyroid in :an overactive thyroid in :

Grave’s disease.Grave’s disease. Toxic nodular goitre.Toxic nodular goitre.

Hypothyroidism, for example Hypothyroidism, for example with Hashimoto’s disease.with Hashimoto’s disease.

GRAVES’ DISEASEGRAVES’ DISEASE

Foreword: Foreword:

• Autoimmune diseaseAutoimmune disease, in which immunoglobulins are directed , in which immunoglobulins are directed

against the TSH receptors on the thyroid cellular membrane.against the TSH receptors on the thyroid cellular membrane.

• Most common form of thyrotoxicosis.Most common form of thyrotoxicosis.

• May occur at any age but mostly from May occur at any age but mostly from 20-4020-40..

• Is a condition that predominantly affects Is a condition that predominantly affects females. females.

Clinical features:Clinical features: I. Eye features.I. Eye features.

II. Goitre.II. Goitre.

III. Thyroid dermopathy (pretibial myxedema).III. Thyroid dermopathy (pretibial myxedema).

IV. Heat intolerance.IV. Heat intolerance.

V. Cardiovascular.V. Cardiovascular.

VI. Gastrointestinal.VI. Gastrointestinal.

VII. Reproductive.VII. Reproductive.

VIII. Bone.VIII. Bone.

IX. Neuromuscular.IX. Neuromuscular.

X. Skin.X. Skin.

Eye features:Eye features:

Classes 0-6, mnemonic Classes 0-6, mnemonic “NO SPECS”“NO SPECS”

• Class 0: Class 0: NNo signs or symptoms.o signs or symptoms.

• Class 1: Class 1: OOnly signs (lid retraction, stare, lid lag), no symptoms.nly signs (lid retraction, stare, lid lag), no symptoms.

• Class 2: Class 2: SSoft tissue involvement (periorbital edema, congestionoft tissue involvement (periorbital edema, congestion

or redness of the conjunctiva, and chemosis).or redness of the conjunctiva, and chemosis).

• Class 3: Class 3: PProptosis .roptosis .

• Class 4: Class 4: EExtraocular muscle involvement.xtraocular muscle involvement.

• Class 5: Class 5: CCorneal involvement.orneal involvement.

• Class 6: Class 6: SSight loss (optic nerve involvement).ight loss (optic nerve involvement).

Lid lag in downgaz lid retraction Lid lag in downgaz lid retraction

CONJUNCTIVAL HYPERAEMIA PERIORBITAL AND LID SWELLINGCONJUNCTIVAL HYPERAEMIA PERIORBITAL AND LID SWELLING

proptosis chemosis

Diagnosis:Diagnosis:

Low TSH, High FT4 and/or FT3.Low TSH, High FT4 and/or FT3.

If eye signs are present, the diagnosis of Graves’ disease can be made without If eye signs are present, the diagnosis of Graves’ disease can be made without further tests.further tests.

If eye signs are absent and the patient is hyperthyroid with or without a goitre, If eye signs are absent and the patient is hyperthyroid with or without a goitre, we need other tests for diagnosis (radioiodine, ………).we need other tests for diagnosis (radioiodine, ………).

Symptoms and signs influence the management Symptoms and signs influence the management

strategy so we should assesse:strategy so we should assesse:

The degree of exophthalmos (exophthalmometer).The degree of exophthalmos (exophthalmometer).

the intraocular pressure.the intraocular pressure.

Extraocular muscle thickness Extraocular muscle thickness

(CT, ultrasonography).(CT, ultrasonography).

The degree of optic nerve compressionThe degree of optic nerve compression

(electroretinogram, cortical visual evoked (electroretinogram, cortical visual evoked

potentials, and color contrast sensitivity ).potentials, and color contrast sensitivity ).

Treatment:Treatment:

• Medical therapy.Medical therapy.

• Surgical therapy.Surgical therapy.

• Radioactive iodine therapy.Radioactive iodine therapy.

Management of opthalmopathy:Management of opthalmopathy:

Management involves cooperation between the endocrinologist Management involves cooperation between the endocrinologist

and the opthalmologist.and the opthalmologist.

Keep Keep head elevated head elevated at night to diminish periorbital edema.at night to diminish periorbital edema.

If the cornea is exposed, it is important to prescribe If the cornea is exposed, it is important to prescribe artificial tearsartificial tears

as a means of corneal lubrication.as a means of corneal lubrication.

For more severely affected eyesFor more severely affected eyes, immunosuppressive therapy , immunosuppressive therapy with glucocorticoids with glucocorticoids benefit approximately 60% of patients with benefit approximately 60% of patients with

thyroid-associated opthalmopathy.thyroid-associated opthalmopathy.

If steroid therapy is not effective external If steroid therapy is not effective external x-ray therapy x-ray therapy to the to the

retrobulbar area may be helpful.retrobulbar area may be helpful.

If vision is threatened If vision is threatened orbital decompressionorbital decompression ( surgical) can be ( surgical) can be

used.used.

Hashimoto’s thyroiditis Hashimoto’s thyroiditis •Is a common cause of hypothyroidism and goitre especially in children and Is a common cause of hypothyroidism and goitre especially in children and

young adults.young adults.

•It is an It is an autoimmune disease autoimmune disease ..

•Hypothyroidism usually has an insidious onset : patients present with Hypothyroidism usually has an insidious onset : patients present with

complaints of (lethargy, weight gain, dry and thickened skin ………………).complaints of (lethargy, weight gain, dry and thickened skin ………………).

•Ophthalmologic features:Ophthalmologic features:

periorbital swelling (part of the generalized nonpitting skin edema of periorbital swelling (part of the generalized nonpitting skin edema of

myxedema).myxedema).

characteristic loss of the outer third of the eyebrow.characteristic loss of the outer third of the eyebrow.

open-angle glaucoma (deposition of a mucopolysaccharide within the open-angle glaucoma (deposition of a mucopolysaccharide within the

trabecular meshwork).trabecular meshwork).

periorbital swelling loss of the outer third of the eyebrow.

PARATHYROID EYE DISEASE PARATHYROID EYE DISEASE

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

Hyperparathyroidism:Hyperparathyroidism: Hyperparathyroidism may be subdivided into primary, Hyperparathyroidism may be subdivided into primary,

secondary, tertiary, and pseudohyperparathyroidism.secondary, tertiary, and pseudohyperparathyroidism.

Hyperparathyroidism causes Hyperparathyroidism causes hypercalcemiahypercalcemia can lead can lead

to to ocular manifestations ocular manifestations ::

calcification of the conjunctiva.calcification of the conjunctiva.

calcified nodules of the eyelids.calcified nodules of the eyelids.

band keratopathy.band keratopathy.

Band keratopathy

calcification of the conjunctiva.

Hypoparathyroidism:Hypoparathyroidism: Is usually the result of the accidental removal of the parathyroid Is usually the result of the accidental removal of the parathyroid

glands during glands during thyroidectomythyroidectomy, although it may be , although it may be idiopathic idiopathic in in origin. origin.

The lack of parathyroid hormone produces a clinical state of The lack of parathyroid hormone produces a clinical state of hypocalcemia and hyperphosphatemia.hypocalcemia and hyperphosphatemia.

The ocular response to hypocalcemia is:The ocular response to hypocalcemia is: cataractogenesis: cataractogenesis:

At presentation the lens develops subcapsular cataract.At presentation the lens develops subcapsular cataract. Which with progression, involves the lenticular cortex. Which with progression, involves the lenticular cortex.

chronic keratoconjunctivitis chronic keratoconjunctivitis (especially in children with idiopathic (especially in children with idiopathic Hypoparathyroidism ). Hypoparathyroidism ).

subcapsular cataractchronic keratoconjunctivitis

Adrenal eye diseaseAdrenal eye diseaseCushing's Syndrome:Cushing's Syndrome:

Excessive production of adrenocortical products.Excessive production of adrenocortical products.

Ocular involvement Ocular involvement is poorly defined and may include :is poorly defined and may include :

Cataract (posterior subcapsular type) due to prolonged administration of Cataract (posterior subcapsular type) due to prolonged administration of

steroids not a feature of endogenous steroid overproduction.steroids not a feature of endogenous steroid overproduction.

elevation of intraocular pressure.elevation of intraocular pressure.

hypertensive retinopathy.hypertensive retinopathy.

proptosis.proptosis.

Addison's Disease:Addison's Disease:

Caused by insufficiency of theCaused by insufficiency of the

adrenal cortex.adrenal cortex.

ocular manifestations:ocular manifestations: pigmentation involving the pigmentation involving the

eyelids and conjunctiva.eyelids and conjunctiva.

Papilledema caused byPapilledema caused by

increased increased

intracranial pressure.intracranial pressure.

Neuroblastoma:Neuroblastoma:

Neuroblastomas arise from primitive neuroectodermal elements.Neuroblastomas arise from primitive neuroectodermal elements.

Patients may present with an abdominal mass and, because most of these Patients may present with an abdominal mass and, because most of these tumors secrete catecholamines.tumors secrete catecholamines.

ocular manifestation ocular manifestation ::

orbital metastatic orbital metastatic can present with:can present with:

proptosis.proptosis.

subconjunctival hemorrhage .subconjunctival hemorrhage .

ecchymosis of the eyelids.ecchymosis of the eyelids.

Horner's syndromeHorner's syndrome, usually associated with , usually associated with heterochromia iridis heterochromia iridis (less (less

common ).common ).

ecchymosis of the eyelids heterochromia iridis

Pheochromocytoma:Pheochromocytoma:

This rare catecholamine-secretingThis rare catecholamine-secreting

tumor originates in chromaffin cells.tumor originates in chromaffin cells.

The major ophthalmic featureThe major ophthalmic feature

of the condition of the condition is is hypertensivehypertensive

retinopathyretinopathy with: with:

flame-shaped hemorrhages.flame-shaped hemorrhages.

cotton-wool spots.cotton-wool spots.

narrowed arteries.narrowed arteries.

swollen optic discs.swollen optic discs.

Gonadal Disorders:Gonadal Disorders:

Turner syndrome:Turner syndrome: Turner syndrome is a condition in which there is an absence or structural Turner syndrome is a condition in which there is an absence or structural

abnormality of one X chromosome in phenotypic females.abnormality of one X chromosome in phenotypic females.

Ocular manifestations:Ocular manifestations: strabismusstrabismus ptosisptosis hypertelorism.hypertelorism. epicanthus.epicanthus. red–green color deficiency.red–green color deficiency. Ocular hypertension and glaucoma.Ocular hypertension and glaucoma.

Klinefelter's syndrome:Klinefelter's syndrome: Is the most frequent form of sex chromosome aneuploidy.Is the most frequent form of sex chromosome aneuploidy.

Ocular manifestations Ocular manifestations include:include:

colobomas of the iris,colobomas of the iris,

choroid and optic nerve.choroid and optic nerve.

microphthalmia.microphthalmia.

strabismus.strabismus.

Thanks