Transcript Leukocoria - diabetic retinopathy

Leukocoria
Causes of Leukocoria
DIFFERENTIAL DIAGNOSIS
OF LEUKOCORIA
Cataract
Retinoblastoma
Toxocariasis
Coat´s disease
ROP
PHPV
Retinal detachment
Coloboma
Retinal dysplasia
Norrie´s disease
Developmental Cataracts
Nontraumatic unilateral cataracts first detected after
6 months of age also present special
concerns.Usually, the precise age of onset is not
known. In some cases, particularly those associated
with thinning of the posterior lens capsule (posterior
lenticonus or lentiglobus), the duration of significant
visual deprivation may have been relatively brief. 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
pediatrician's records of red reflex observation can
help to establish a good visual prognosis.
Retinoblastoma
Retinoblastoma is the most common intraocular
tumor of childhood, accounting for 1% of childhood
cancer deaths in the United States and 5% of
blindness in children. The incidence is 1 in 15,000 to
1 in 20,000 live births.
Overall mortality from retinoblastoma decreased from
95% a century ago. With modern diagnostic and
therapeutic advances, the mortality rate from
metastatic or recurrent retinoblastoma has been as
low as 5%.
RETINOBLASTOMA
CLINICAL
MANIFESTATIONS
Leukocoria (60%)
Strabismus (20%)
OTHER- Uveitis, Orbital
cellulitis, Hyphaema,
Heterochromia,
Glaucoma, Bupthalmos
RETINOBLASTOMA
Retinoblastoma
The disease is bilateral in approximately 30%
of cases. The average age at diagnosis is 18
months and 90% of patients are diagnosed
before the age of 3 years. Less than 10% of
retinoblastoma suffers have a family history
of the disorder, 90% of cases are sporadic.
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
GENETICS
Retinoblastoma gene is a recessive oncogene of 180,000
kilobases.
Located chromosome- 13q14
Knudson two hit hypothesis:Germinal cells have one defective and one normal RB gene.
A somatic mutation results in loss of the normal RB gene and
hence retinoblastoma develops (somatic mutations occur
frequently enough in the developing retina, therefore lesions
usually affect both eyes)
In addition, the first child of a parent who had had a unilateral
retinoblastoma has a 4% chance of developing the disease
PATHOLOGY
Arise in primitive photoreceptor cells.Characteristic histology:
Retinoblastomas are composed of poorly differentiated neuroblastic
cells with scanty cytoplasm and prominent basophilic nuclei.
The tumour proliferates rapidly, with a tendency to outgrow its blood
supply and undergo spontaneous necrosis. Necrotic tumour being
eosinophilic stain pink.
Characteristic Flexner-Wintersteiner rosettes represent an attempt at
retinal differentiation. Histologically, a ring of cuboidal cells is seen
surrounding a central lumen. Cuboidal tumour cells with basally
oriented nuclei arranged around a central lumen.
Calcification is another feature of retinoblastomas, 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
retinoblastomas from other tumours.
PATHOLOGY
Retinoblastoma
MANAGEMENT
EMPIRICAL GENETIC COUNSELLING
ENUCLEATION
unilateral, poor visual prognosis
PLAQUE
4-12mm +/- vitreous seeding
EXTERNAL BEAM
>12mm, multiple foci, only eye
LASER
consider- indirect, xenon arc
cryotherapy if <2dd in size
CHEMOTHERAPY, if intracranial extension
Non-Retinoblastoma
Malignancies
Unfortunately, children who have genetic
retinoblastoma and survive their primary
intraocular cancer have a substantially
increased risk of death from one or more
nonretinoblastoma malignancies over the
course of their lifetimes, up to 35% of
children who have had a bliateral
retinoblastoma and external beam radiation
therapy will develop a second cancer by age
25 years
Congenital retinal
telangiectasis (Coats' disease)
Congenital retinal telangiectasis (Coats' disease) is an
idiopathic retinal vascular disorder that usually affects
young male patients unilaterally in their first or
second decade of life. Congenital retinal
telangiectasis, however, can affect patients of either
gender and become manifest at any age. Up to one
third of patients are older than 30 years of age at the
time of presentation.There is no defined familial
inheritance. Patients may present with decreased
vision, as well as strabismus or leukocoria in children.
The hallmark feature of congenital retinal
telangiectasis is localized fusiform aneurysmal
dilations of the retinal vessels reminiscent of tiny light
bulbs
Retinal vascular anomalies
The vascular anomalies can occur anywhere in the fundus and
may involve the capillaries, arteries, and veins.
Other findings may include vascular loops and beading, retinal
neovascularization, hemorrhagic retinal macrocysts, and
segmentally dilated capillaries.
Leakage from the incompetent vasculature may lead to retinal
edema, lipid deposition, or, in severe cases, an exudative retinal
detachment.
The extent of retinal involvement is variable.
Infants and children often are more severely affected with
extensive vascular involvement and massive subretinal lipid
exudate.
Persistent hyperplastic primary
vitreous (PHPV)
Persistent hyperplastic primary vitreous (PHPV) is a
congenital anomaly in which the primary vitreous
fails to regress in utero. Highly vascular mesenchymal
tissue nurtures the developing lens during
intrauterine life. In PHPV, the mesenchymal tissue
forms a mass behind the lens.
A gray-yellow retrolental membrane may produce
leukocoria, with the subsequent suspicion of
retinoblastoma.
In PHPV, the globe is white and slightly
microphthalmic. Patients have no history of
prematurity or oxygen administration.
RETINOPATHY OF PREMATURITY (ROP)
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)
In the early active stages of ROP, a band of
glomeruloid capillaries proliferates at the junction
between the peripheral nonperfused and the
posterior perfused retina. The proliferating vessels
break through the internal limiting membrane and
invade the vitreous, inciting fibrosis and contraction.
In the later cicatricial stages of ROP, the retina is
folded on itself by the organized vitreous, forming a
fibroneural mass that drags the macula and optic disc
temporally. The end stage of the disease is marked
by total retinal detachment, leukocoria, blindness,
and phthisis bulbi.
RETINOPATHY OF PREMATURITY (ROP)
LOCATION
zone 1 - centred on
disc, 2x disc to fovea
distance
zone 2 - outer limit
equator temporally, ora
nasally
zone 3 - temporal
peripheral crescent –
in clock hoursrush
disease- SI-SV in 2/52
CLASSIFICATION - STAGING
SI- flat demarcation line with
branching blood vessels up to line
SII- ridge with volume, blood
vessels enter ridge
SIII- ridge + extraretinal
fibrovascular proliferation
SIV- retinal detachment- a (not
involving the fovea), b (involving the
fovea)
SV- total RD, open or closed funnel
plus disease- dilated tortuous
vessels in posterior pole, vitreous
haze and poor mydriasis
RETINOPATHY OF PREMATURITY (ROP)
LOCATION
zone 1 - centred on
disc, 2x disc to fovea
distance
zone 2 - outer limit
equator temporally, ora
nasally
zone 3 - temporal
peripheral crescent –
RETINOPATHY OF PREMATURITY (ROP)
Toxoplasmosis
Toxoplasmosis gondii is an obligate
intracellular protozoa causing up to
50% of cases of posterior uveitis.
Ocular infection is characterised by focal
necrotising retinochoroiditis with
vitritis.In congenital infection the eye
may also be affected by cataract,
microphthalmos, and optic atrophy
Chorioretinitis and congenital
toxoplasmosis
The main clinical manifestations of the symptomatic
form of toxoplasmosis are microcephaly or
hydrocephaly, cerebral palsy, epilepsy, mental
retardation, cerebral calcification, and chorioretinitis.
The most important signs in the diagnosis of
congenital toxoplasmosis are the three Cs:
convulsions, calcification (intracranial), and
chorioretinitis. 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.
Congenital Toxoplasmosis
Highest transmission occurs in the IIIrd trimester
90% of congenital infections have no clinical signs
Earlier infection occurs in pregnancy - worse potential
outcome
Triad:- convulsions,
cerebral calcification
and chorioretinitis
Eye - chorioretinitis, cataracts, microphthalmos,
panuveitis, optic atrophy
Investigation of Toxoplasmosis
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 may be seen around the visible
lesions implying the affected retina is greater
than apparent initially. This sign may be
useful in assessing the effect of treatment.
Some indications for active
treatment of toxoplasmosis
Lesions that involve
the macula,
papillomacular bundle or optic disc
Large, active lesions should be treated.
Immunocompromised patients should
be treated.
Ocular toxocariasis
Ocular toxocariasis is a unilateral
disorder that presents as strabismus,
leukocoria or decreased vision. Retinal
damage is the result of the host's
inflammatory response to the single
infection nematode, which must usually
be dead before the uveitis can develop.
The posterior uveitis may be of severe
intensity.
Toxocariasis subretinal granuloma
Ocular toxocariasis may present with
decreased vision, strabismus, leukocoria, or
uveitis.
Most commonly a subretinal granuloma is
present in the posterior pole in an otherwise
quiet eye.
In the early stages, it is elevated above the
retina and may resemble a neoplasm.
Retinal detachment in childhood
Retinal detachment in childhood can be confused
with retinoblastoma, and vice versa. The possibility of
an underlying retinoblastoma should always be
considered when a child presents with retinal
detachment and vitreous hemorrhage, even when a
history of trauma is obtained. Appropriate
preoperative studies (ultrasonography or computed
tomography) are indicated; if vitrectomy is
performed, the specimen should be submitted for
cytologic examination.
Retinal detachment in
childhood
Retinal detachment in childhood can be
confused with retinoblastoma, and vice
versa. The possibility of an underlying
retinoblastoma should always be
considered when a child presents with
retinal detachment and vitreous
hemorrhage, even when a history of
trauma is obtained.
Norrie disease
Norrie disease, or the progressive
oculoacousticocerebral degeneration of
Norrie, is a rare, 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. Apparent at birth or
in early infancy, the ocular findings usually
progress to phthisis bulbi. An identical
disorder in a Maltese kindred is called
Episkopi blindness.
Retinal dysplasia
Retinal dysplasia and PHPV are characteristic
ocular findings in trisomy 13; in fact, trisomy
13 was called retinal dysplasia before the
chromosomal defect was identified. The
multitude of systemic and ocular findings
found in patients with trisomy 13 may include
bilateral leukocoria. Rarely, retinal dysplasia
occurs unilaterally in the congenitally
malformed eyes of otherwise healthy
persons.
COLOBOMA
OPTIC DISC COLOBOMA
Due to failure of closure of foetal fissure
inferiorly
May be isolated disc or associated chorioretinal
coloboma
ISOLATED DISC COLOBOMA
Rare,
Usually sporadic, some AD
Can be bilateral
Visual acuity varies from normal to NPL.
Associated- optic disc pit, hyaloid artery
remnant, myopia, posterior
lenticonus,transphenoidal encephalocoele,
cardiac defects, VII palsy
RETINOCHOROIDAL COLOBOMA
ASOCIATIONS
Coloboma of iris, aniridia, PHPV, microphthalmos
Associated CVS, CNS and ear malformations
CHARGE !
CHARGE (For diagnosis at least 4 of the highlighted abnormalities are
required).
Colobomas,
Heart defects,
Choanal Atresia,
Retarded growth,
Genital abnormalities,
Ear abnormalities
CHARGE is also associated with facial palsy, micrognathia, cleft palate,
pharyngeal incompetence, tracheo-oesophageal fistula, renal and cardiac
abnormalities.
Note many other syndromes have colobomata.