Transcript Weill-Marchesani syndrome

Diseases of the Lens
Doç.Dr.Raciha Beril Küçümen
Yeditepe University Department of Ophthalmology
2013 - 2014 Educational Year
AIM
• Learning the diagnosis and treatment of
lens diseases.
• Learning the relationship between lens
diseases and other systemic diseases.
OBJECTIVE
• To be able to completely list the etiology,
classification, signs and symptoms, and different
types of cataract.
• To be able to completely write the diseases and
syndromes that cause lens dislocation.
• To be able to completely list lens shape
disorders.
• To be able to completely list of cataract surgical
techniques and technology used in modern
cataract surgery.
Cataract
• Any congenital or acquired opacity in the
lens capsule or substance is called
cataract.
Classification of cataract
• Aetiological
• Morphological
• According to maturity
• According to age of onset
Aetiological
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Senile
Presenile
Traumatic
Metabolic
Toxic
Complicated (secondary)
Maternal infection
Maternal drug ingestion
Syndromes
Hereditary
Cataract
• Age - related cataract is a very common
cause of visual impairment in older adults.
• In cross - sectional studies the prevalence
of cataract is 50% in people between the
ages of 65 and 74 increasing to 70% in
those over the age of 75.
• The pathogenesis of age - related cataract
is multifactorial and not completely
understood.
Senile
• Subcapsular: Anterior or posterior.Patients with
posterior subcapsuler cataract have more diminished
near vision than their distance vision.
• Nuclear: Its frequently associated with myopia due to an
increase in the refractive index of the lens and also with
increased spherical aberration. Some individuals read
without spectacles a condion referred as second sight
• Cortical: Anterior, posterior, equatorial.
• Christmas Tree cataract is uncommon , characterized
by polychromatic, needle-like deposits in cortex and
nucleus - myotonic dystrophy
Subcapsular cataract
Anterior
Posterior
Nuclear cataract
Progression
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Exaggeration of normal nuclear
ageing change
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Increasing nuclear opacification
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Causes increasing myopia
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Initially yellow then brown
Cortical cataract
Progression
Initially vacuoles and clefts
Progressive radial spoke-like opacities
Christmas Tree Cataract
Traumatic:
• Penetrating (intraocular foreign body,
siderosis bulbi, chalcosis)
• Concussion
• İnfrared irradiation (glass-blowers’ cataract)
• Electrical injury
• Chemical injuries
• Ionizing radiation (ocular tumors such as
retinoblastoma)
• Ultraviolet radiation
Trauma is the most common cause of
unilateral cataract in young individuals.
Causes of traumatic cataract
Concussion
‘Vossius’ ring from
imprinting of iris pigment Flower-shaped
Penetration
Other causes
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Ionizing radiation
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Electric shock
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Lightning
Metabolic:
• Diabetes:Is associated with two types of
cataract.
• 1)Senile cataract which appears earlier
and may progress more rapidly.
• 2)True diabetic cataract which is due to
osmotic overhydration of the lens and
appears as bilateral white punctate or
snowflake posterior or anterior opacities.
Other causes of cataract - diabetes
Juvenile
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Adult
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Metabolic:
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Galactosaemia – Oil droplet cataract
Hypoglycaemia
Galactokinase deficiency
Mannosidosis
Fabry’s disease - angiokeratoma corporis diffusum
Lowe syndrome – Posterior lenticonus
Wilson disease – Sunflower cataract
Hypocalcaemia- tetanic cataract-parathyroid
destruction
• Myotonic dystrophy – ‘Christmas tree’ cataract
Toxic:
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Corticosteroids
Chlorpromazine- (Largactil) sedative
Miotics
Busulphan - Myleran
Gold – Romatid arthritis
Amiodarone
Corticosteroids:
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Posterior subcapsular cataract
Safe dose? Children are more susceptible
Individual susceptibility (genetic?)
Less in intermittent therapy
Drugs
Systemic or topical steroids
- initially posterior subcapsular
Chlorpromazine
- central, anterior capsular
granules
Other drugs
Long-acting miotics
• Amiodarone
• Busulphan
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Secondary:
• Anterior uveitis: This is the most common cause
of secondary cataract.The lens opacification
seems to progress more rapidly in the presence
of posterior synechia.
• Hereditary retinal: Retinitis pigmentosa, Leber’s
congenital amaurosis,Wagner’s and Stickler’s
syndrome)
• High myopia
• Glaukomflecken – acute angle closure glaucoma
Glaucoma and Cataract
• Glaukomflecken
Acute angle closure glaucoma
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Cataract and Glaucoma
Lens – Induced Glaucoma
 Phacolytic Glaucoma
mature /hypermature cataracts: denatured
lens protein leaks through intact capsule,
macrophages ingest lens protein , together they
clog the trabecular meshwork.
 Lens Particle Glaucoma
After cataract surgery retained cortical material
particles obstruct trabecular meshwork
 Phacomorphic Glaucoma
Intumescent cataract causes pupillary block and
angle closure glaucoma
Lens – Induced Glaucoma
Signs & Symptoms:
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Headache
Nausea
Impaired general condition
Red eye
Pain in the eye
Visual loss
High intraocular pressure
Middilated pupil with no reaction
Shallow anterior chamber
Leukocoria
Treatment:
• Systemic & Topical
antiglaucomatous agents
• Tranquilizers
• Laser iridotomy
• Cataract Surgery
Congenital Cataract
Maternal infections:
• Rubella: Fetal infection is the direct result of
maternal viraemia (which may be clinical or
subclinical) with seeding of the virus in the
plasenta.
• Fetal infection is about 50% during the first 8
weeks,33% between week 9 and 12 and about
10% between 13 and 24.
• Cataract, microphtalmos,retinopathy, glaucoma
etc
• Cataracts are present in about 50% of
cases.After the gestastional age of 6 weeks the
virus is incapable of transversing the lens
capsule so that the lens is immune.
Maternal infections:
• Altough the lens opacities (which may be
unilateral or bilateral) are usually present
at birth, they may occasionally develop
several weeks or even months later.
• The virus has been shown to be capable
of persisting within the lens for up to
3 years postnatally.
Maternal drug ingestion:
• Thalidomide
• Corticosteroids
Leukocoria
• literally means " white pupil «
• Leukocoria can be caused by
abnormalities in the lens (eg, cataract),
vitreous (eg, hemorrhage), or retina (eg,
retinoblastoma)
Causes of Leukocoria
• Retinoblastoma
• Persistent fetal vasculature
• Retinopathy of prematurity
• Cataract
• Coloboma (fissure or cleft) of
choroid or optic disc
• Uveitis
• Toxocariasis
• Coats disease
• Vitreous hemorrhage
• Retinal dysplasia
Syndromes:
• Down’s syndrome (mongolism)
• Werner’ s syndrome
• Rothmund’s syndrome
Hereditary
• 1/3 of all congenital cataracts are
hereditary and unassociated with any of
the metabolic or sistemic disorders.
• The mode of inheritance is usually
dominant.
Morphological:
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Capsular
Subcapsular
Nuclear
Cortical
Lamellar
Sutural
According to maturity
• Immature: Scattered opacities are seperated by
clear zones.
• Mature: Cortex is totally opaque
• Intumescent: The lens has become swollen by
imbibed water.It can be mature or immature
• Hypermature: Mature cataract which has
become smaller and has a wrinkled capsule due
to leakage of water out of lens.
• Morgagnian: Hypermature cataract in which
total liquefaction of the cortex has allowed the
nucleus to sink inferiorly.
Classification according to maturity
Immature
Hypermature
Mature
Morgagnian
According to the age of onset
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Congenital
Infantile
Juvenile
Presenile
Senile
Abnormalities of the lens shape:
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Coloboma
Anterior lenticonus
Posterior lenticonus
Lentiglobus
Microphakia
Microspherophakia
Coloboma
Ocular associations
Coloboma of iris
Coloboma of choroid
Giant retinal tear
Lenticonus
Posterior
Posterior axial bulge
• Unilateral - usually sporadic
• Bilateral - familial or in Lowe
syndrome
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Anterior
Central 3-4 mm of
the lens
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Anterior axial bulge
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Associated with Alport syndrome
LOWE SYNDROME
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Oculocerebrorenal syndrome
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Error of aminoacid metabolism
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X-linked inheritance pattern
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Frontal prominence and sunken eyes
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Proteinuria
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Fanconi syndrome
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Renal tubular acidosis
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Areflexia
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Muscular hypotonia
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Mental retardation
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Glaucoma
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Posterior polar cataract + lenticonus
ALPORT SYNDROME
• XLD inheritance
• Anterior lenticonus
• Pigmentary retinopathy
• Chronic renal failure
• Sensorineural deafness
• Hematuria
Small lens
Microphakia
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Small diameter
Systemic association
- Lowe syndrome
Microspherophakia
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Small diameter and spherical
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May be familial (dominant)
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Systemic association
- Weill-Marchesani syndrome
Ectopia lentis
• Ectopia lentis is a displacement of the lens
and may be congenital,developmental or
acquired.
• A subluxated lens is partially displaced
from its normal position but remains in the
pupillary area.
• A luxated or dislocated lens is completely
displaced from the pupil implying
seperation of all zonular attachments.
Ectopia lentis
• Findings associated with subluxation of the
lens include decreased vision,marked
astigmatism,monocular diplopia and
iridonesis.
• Potential complications of ectopia lentis
include cataract and displacement of the
lens into the anterior chamber or into the
vitreous.
Ectopia lentis
• Dislocation into the anterior chamber or
pupil may cause pupillary block and angle
–closure glaucoma.
Ectopia lentis
• Inherited
Marfan’s syndrome,
Weill-Marchesani syndrome,
Homocystinuria
Hyperlysinaemia
Familial ectopia lentis
Aniridia
Marfan’ syndrome
• Marfan’s syndrome is a heritable disorder
with ocular,cardiac and skeletal
manifestations.
• From 50% to 80 % of patients with
Marfan’s syndrome exhibit ectopia lentis.
• The lens subluxation tends to be bilateral
and symmetric and is usually superior and
temporal.
Marfan’s syndrome
• The zonuler attachments usually remain intact
but become streched and elongated.
• Associated ocular abnormalities in Marfan’s
syndrome include axial myopia and increased
risk of retinal detachment.
• Children with lens subluxation may develop
amblyopia if there is significant asymmetry in
their refractive error or if their refractive error is
uncorrected in early childhood.
Autosomal dominant
Systemic features of Marfan syndrome
• Limb-trunk disproportion
• Arachnodactyly
• Pectus excavatum • Aortic dilatation, dissection
and regurgitation
• High-arched palate • Mitral valve prolapse
Ocular features of Marfan syndrome
Lens
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Upward subluxation
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Zonule usually intact
Angle anomaly and
glaucoma
Retinal detachment
Lattice
degeneration
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Cornea plana
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Axial myopia
Blue sclera
Autosomal recessive
Weill-Marchesani syndrome
Systemic features
Ocular features
• Microspherophakia
• Short stature
• Anterior lens subluxation
• Short stubby fingers (brachydactyly)
• Angle anomaly and glaucoma
• Mental handicap
Ectopia lentis
• Acquired:
Trauma(common)
Large eye(High myopia,buphthalmos)
Anterior uveal tumours
Chronic cyclitis(rare)
Hypermature cataract
Syphilis
Acquired ectopia lentis
Trauma
Stretched zonules
• Buphthalmos
• Megalocornea
Anterior uveal tumours
High myopia
Treatment
• The treatment of cataract is surgical
Surgical Techniques
1. Intracapsular cataract extraction
(+ spectacles / contactlens / intraocular lens (IOL) )
2. Extracapsular cataract extraction + IOL
3. Phacoemulsification + IOL
Phacoemulsification
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Anesthesia (topical, local, general)
Incision
Capsulorhexis
Hydrodissection
Phacoemulsification
Irrigation – aspiration
IOL Implantation
Removal of viscoelastic substance
Hydration of the incisions
Phacoemulsification
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IOL Implantation
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Anesthesia (topical, local,
general)
Incision
Capsulorhexis
Hydrodissection
Phacoemulsification
Irrigation –aspiration
IOL Implantation,
Removal of viscoelastic
substance
Hydration of the incisions
Complications of Cataract Surgery
MAJOR- EARLY
• Endophthalmitis!!
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Blurred vision- loss of vision
Severe ocular pain
Photophobia
Periorbital edema
Ciliary injection
Chemosis (conjunctival edema) • Treatment: URGENT!!
Corneal edema
• Vitreous tap-biopsy
Hypopyon - Collected white
• Systemic antibiotics
material in the anterior
• Topical antibiotics-fortified
chamber
• Intravitreal antibiotics
• Vitrectomy (pars plana vitrectomy)
Complications of Cataract Surgery
MAJOR-LATE
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Bullous Keratopathy
IOL Malposition
Cystoid Macular Edema
Retinal Detachment
Complications of Cataract Surgery
OTHER - EARLY
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Wound gape
Anterior Chamber Hemorrhage
İris Trauma
Zonular Rupture
Posterior Capsular Rupture
Vitreous Loss
Vitreous Hemorrhage
• Choroidal Hemorrhage!!
OTHER- LATE
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Uveitis
Glaucoma (open angle/closed angle)
Posterior Capsule Opacification
IOL Dislocation