Transcript leucokoria

Dr Mahmood Fauzi
ASSIST PROF OPHTHALMOLOGY
AL MAAREFA COLLEGE
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Define leucokoria
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Explain presenting sign of leucokoria
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Enlist differential diagnoses of leucokoria
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Summarize clinical presentation ,diagnoses and management of
some common causes of leucokoria-
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Retinoblastoma,retinopathy of prematurity ,congenital
cataracts,coats disease ,toxoplasmoses,retinal detachment
dysplasia, coloboma.
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Outline diagnostic Workup in a child with leucokoria
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The term leukocoria means "white pupil" and is the name
given to the clinical finding of a white pupillary reflex.
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While occasionally the reflection of a normal optic disc,
leukocoria can also be caused by abnormalities in the
lens, vitreous, or retina.
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It can be the initial manifestation of a wide spectrum of
intraocular and systemic disease processes, and the
presenting sign of abusive head trauma.
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DIFFERENTIAL DIAGNOSIS OF LEUKOCORIA
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Cataract
Retinoblastoma
Retinal detachment
ROP
PHPV
Coat´s disease
Toxocariasis
Coloboma
Retinal dysplasia
Norrie´s disease
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Retinoblastoma is the most common and rapidly
developing intraocular tumor of childhood, accounting
for 1% of childhood cancer deaths and 5% of blindness in
children.
Develops in the cells of the retina in childhood(1-4) year.
Approximately 1in 20,000 birth
The disease is bilateral in approximately 30% of cases.
Overall mortality from retinoblastoma is now decreased.
With modern diagnostic and therapeutic advances, the
mortality rate from metastatic or recurrent
retinoblastoma has been as low as 5%.
CLINICAL MANIFESTATIONS
 Leukocoria (60%)
 Strabismus (20%)
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OTHER Uveitis,
Orbital cellulitis,
Hyphaema,
Heterochromia,
Glaucoma,
Bupthalmos
Presentations of Retinoblastoma
• Leukocoria - 60%
• Anterior segment invasion
• Strabismus - 20%
• Orbital inflammation
• Secondary glaucoma
• Orbital invasion
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mutation on chromosome 13
Less than 10% of retinoblastoma suffers have a family
history of the disorder (Rb gene), 90% of cases are
sporadic.
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Of the sporadic cases, the responsible mutation is in a
germ cell in 25% of cases and in a somatic cell in 75% of
cases
Endophytic Retinoblastoma
tumour grows into viterious cavity
Friable white mass
grows into the vitreal cavity
Cottage cheese appearance
Vitreous seedings
Exophytic Retinoblastoma
tumour grows into subretinal space
Multilobulated white mass with
overlying retinal detachment
May be difficult to visualize
through deep detachment
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Eye exam. For a more thorough exam, anesthetics may be used to keep
the child still.
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Imaging tests. Imaging tests include ultrasound, computerized
tomography (CT) scan and magnetic resonance imaging (MRI), among
others.
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Consulting with other doctors. oncologist, genetic counselor or a surgeon
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Biopsies are not usually done to diagnose retinoblastoma because
 It can be recognized with great accuracy just by examination
 A biopsy cannot be done easily without harming the eye
 Biopsy may risk spreading cancer cells
CT diagnosis of retinoblastoma
Calcification
• Optic nerve involvement
• Orbital and CNS extension
• Pinealoblastoma
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Arise in primitive photoreceptor cells.
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poorly differentiated neuroblastic cells with scanty cytoplasm and
prominent basophilic nuclei.
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Necrotic tumour , Cuboidal tumour cells
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Characteristic Flexner-Wintersteiner rosettes represent an
attempt at retinal differentiation.
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Calcification, usually occurring in necrotic areas. Calcium stains
with H&E.
It is worth identifying calcium in suspect eyes by ultrasound, or CT
scan to differentiate retino-blastomas from other tumors.
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Genetic Counseling
Treatment of small (3 mm diameter) tumours
 Photocoagulation
 Cryotherapy
 Chemotherapy
Medium sized (upto 12 mm) tumours
 Chemotherapy
 External beam radiation
Large tumours
 Chemotherapy
 Enucleation
Extraocular extension
Chemotherapy
Radiotherapy
Metastatic Disease
High dose chemotherapy
Intra-thecal chemotherapy
Total body radiotherapy
Advantages
Disadvantages
Photocoagulation (Laser Therapy)
The laser beam focuses on the cancerous
tumor, cuts off blood supply to the tumor
and shrinks it.
Depending on the size of the tumor,
chemotherapy may be needed for larger
tumors that cannot be shrunk just by
laser.
Cryotherapy (Freezing Treatment)
The tumor is frozen and thawed several
times by a cold gas and this causes the
tumor to shrink.
The tumor will leave a pigmented scar
and the eye lid will swell for a couple of
days.
Chemotherapy
After the extensive cycles of chemo, the
cancer cells are reduced, thereby,
shrinking of the tumor.
There are several cycles, and there is an
IV port necessary to draw blood, and
inject the drugs.
Enucleation
This is removal of the eyeball and the
tumor is extracted when no other option is
possible due to the size of the tumor.
The whole eyeball is removed with the
attendant problems of anophthalmic
socket.
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Heritable Retinoblastoma patients can
develop recurrences and need to be followed
up regularly
Examine the patients every 6 months till the
age of 5 years and then annually till the age of
10 years.
Poor Prognostic Factors
Optic nerve involvement
Choroidal invasion
Large tumour
Bilateral involvement
Anterior location
Poor cellular differentiation
Older children
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Vasoproliferative retinopathy
affecting premature infants
exposed to high oxygen
INCIDENCE
 Prematurity (<32/40)
 Birth weight (30% < 1000gm
affected)
 Oxygen duration
 90% ROP regresses
spontaneously, 5% blindness
Retinopathy of prematurity (ROP) is a serious
vaso-proliferative disorder that affects extremely
premature infants. Retinopathy of prematurity
often regresses or heals but can lead to severe
visual impairment or blindness. Significant
retinopathy of prematurity can lead to lifelong
disabilities for the smallest survivors of neonatal
ICUs (NICUs). It remains a serious problem
despite striking advances in neonatology.
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Increased oxygen increases VGEF (vascular endothelial growth
factor) which promotes angiogenesis.
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The proliferating vessels invade the vitreous, inciting fibrosis and
contraction.
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In the later cicatricial stages of ROP, the retina is folded on itself,
forming a fibroneural mass that drags the macula and optic disc
temporally.
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The end stage of the disease is marked by total retinal
detachment, leukocoria, blindness, and phthisis bulbi.
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LOCATION
zone 1 - centred on disc,
2x disc to fovea distance
zone 2 - outer limit
equator temporally, ora
nasally
zone 3 - temporal
peripheral crescent –
Regressing ROP
Marked “plus” disease.
extraretinal fibrovascular
proliferation
retinal detachment. Stage 4 ROP
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Non-traumatic unilateral cataracts first detected after 6 months
of age.
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A history of recent-onset strabismus or leukocoria, preservation
of good alignment with central steady fixation (even on a light),
family photographs documenting symmetrical red fundus
reflexes, or paediatrician's records of red reflex observation can
help to establish a good visual prognosis.
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Idiopathic Retinal vascular disorder
Usually affects young male patients unilaterally in
their first or second decade of life.
Up to 1/3rd of patients are >30 years at time of
presentation.
No defined familial inheritance.
Presentation- patients may present with decreased
vision, as well as strabismus or leukocoria in children.
The hallmark feature of Coats' disease is localized
fusiform aneurysmal dilations of the retinal vessels
reminiscent of tiny light bulbs
Pathogenesis: Coats' disease result from breakdown of t bloodretinal barrier in the endothelial cell, resulting in leakage of blood
products containing cholesterol crystals and lipidladen macrophages into the retina and subretinal space. Accumulation
of this proteinaceous exudate thickens the retina, leading to massive,
exudative retinal detachment.
Treatment:
Laser surgery or cryotherapy(freezing) can be used to destroy the
abnormal blood vessels, thus halting progression of the disease. if
leaking blood vessels are clustered around the optic nerve, this
treatment is not recommended as accidental damage to the nerve itself
can result in permanent blindness.
Congenital anomaly in which the primary
vitreous fails to regress in utero.
 Highly vascular mesenchymal tissue forms a
mass behind the lens.
 A grey-yellow retro-lental membrane may
produce leukocoria.
 The globe is white and slightly microophthalmic.
 Patients have no history of prematurity or
oxygen administration.
 PHPV are mostly unilateral and nonhereditary. When bilateral, PHPV may follow
autosomalrecessive or autosomaldominant
inheritance pattern.
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Toxoplasma gondii -protozoa causing up to 50% cases of posterior uveitis.
Ocular infection is characterized by focal necrotizing retinochoroiditis with vitritis.
In congenital infection (Highest transmission occurs in the IIIrd trimester)
The most important signs in the diagnosis of congenital toxoplasmosis are the
three Cs. (Convulsions, calcification (intracranial), Chorio retinitis)
The eye may also be affected by cataract, microphthalmos, and optic atrophy
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Chorioretinitis is present in 80% of children with congenital
toxoplasmosis and is most often bilateral
toxoplasmosis is considered one of the most common causes of
chorioretinitis.
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ELISA IgM in neonates, rising IgG in adults (although not that
helpful in adults).
Fluorescein angiography (hypofluorescence in the early stages
and then progressive leakage).
Indocyanine angiography - multiple small dark spots seen
around the visible lesions. This sign may be useful in assessing
the effect of treatment.
Lesions that involve macula or optic disc
Large, active lesions.
 Immuno compromised patients.
 Treatment with antiparasitic drugs is effective for active infections
but not for the encysted form. The classic treatment includes triple
drug therapy with pyrimethamine (0.5-1 mg/kg/d), sulfadiazine
(120-150 mg/kg/d), and prednisone. Concurrent folinic acid helps to
minimize bone marrow toxicity produced by the pyrimethamine.
Prevention of fetal infection in maternal Toxoplasma during
pregnancy is spiramycin. A 60% decrease has been reported in the
congenital infection rate in patients who received this treatment;
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infection nematode
presents as strabismus,
leukocoria,
severe posterior uveitis,
subretinal granuloma present in the posterior pole
decreased vision.
Retinal damage as a result of inflammatory
response
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Retinal detachment in childhood can be confused
with retinoblastoma, and vice versa.
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The possibility of an underlying retinoblastoma
should always be considered when a child presents
with retinal detachment and vitreous
haemorrhage, even when a history of trauma is
obtained.
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■ Retinopathy of prematurity
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■ Trauma
■ Toxocara
■ Coat’s disease
Systemic diseases
Incontinentia pigmenti
Familial exudative
vitreoretinopathy
X-linked recessive heritable disorder characterized by
bilateral leukocoria caused by retinal detachment.
 Affected boys
 classically have a triad of blindness, deafness, and mental
retardation.
 usually progress to phthisis bulbi.
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Characteristic Ocular Findings in Trisomy 13
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May present with bilateral Leukocoria.
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Rarely, retinal dysplasia occurs unilaterally in the
congenitally malformed eyes of otherwise healthy
persons.
•Greek word koloboma meaning
mutilated or curtailed.
•Occurs due to failure of closure of choroidal fissure
 Coloboma of optic disc:
 Coloboma of choroid and retina:
 Coloboma of macula:
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Associations
 CHARGE Syndrome,Trisomy 13 (Patau syndrome)
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Trisomy 18 (Edwards syndrome),Cat-eye syndrome
Posteriorly located coloboma can involve the optic nerve, retina, and choroid.
If the retina is involved, it appears as an area of whitening often with pigment deposition at the
junction of the coloboma and normal retina.
patients with coloboma have increased risk for retinal detachment.
Eye examination for infants and children
■The term leukocoria means "white pupil" or clinical finding of a white pupillary reflex.
■All children with newly discovered leukocoria should promptly be referred to an ophthalmologist
to exclude retinoblastoma and other life- or sight-threatening conditions.
■leukocoria can also be caused by abnormalities in the lens, occasionally the reflection of a normal
optic disc, vitreous, or retina. It can be the initial manifestation of a wide spectrum of intraocular
and systemic disease processes, and the presenting sign of abusive head trauma.
■The history for the child with leukocoria should include prenatal exposures (toxins, infection,
medications) and complications, birth history, postnatal course (infection, oxygen exposure,
medications), medical history, recent exposures (puppies, kittens) family history (particularly for
retinoblastoma or other eye tumors, eye loss, osteogenic sarcoma, and fetal loss or miscarriage),
growth pattern, development, and review of systems.
■Ophthalmic ultrasound is sometimes used to determine the presence or absence of intraocular
calcium (indicative of retinoblastoma).
■Laboratory evaluation of the child with leukocoria should be directed by the history and physical
examination findings, may include serology or other testing for congenital infections, metabolic
studies (eg. for galactosemia), and genetic studies for various syndromes (e.g., Turner syndrome).
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http://www.aapos.org/terms/conditions/67
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http://www.uptodate.com/contents/approachto-the-child-with-leukocoria
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http://www.ncbi.nlm.nih.gov/pmc/articles/PM
C2704541/