WHITE REFLEX BEHIND THE PUPIL

Contd…

Guide: Dr.Sulatha Bhandary

Presenter : Dr. Aditi Singh

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

(PHPV) OR PERSISTENCE OF THE FETAL

VASCULATURE (PFV)

PHPV is a congenital malformation

Caused by the arrest of normal regression of embryonic vitreous and hyaloid vasculature.

That normally starts at 9 weeks of gestation.

CLINICAL FEATURES:

unilateral, non hereditary.

full term infants

microphthalmia

most common sign is leukocoria,

Subclassified into three types:

Purely anterior presentation:

Unilateral leukocoria,

Retrolental mass into which ciliary processes are inserted.

Complications-cataract, glaucoma and a retrolenticularmembrane.

Treatment: vitreoretinal surgery

cataract surgery

Purely posterior presentation

Leukocoria, strabismus or nystagmus.

Dense white membrane or prominent retinal fold ,extends from optic disc to the ora serrata, can be associated with retinal detachment.

Treatment: not possible.

Combination of anterior and posterior presentations is the most commonly seen.

Complications:

early cataract and closed-angle glaucoma.

Long term: terminal glaucoma, intra-ocular hemorrhage, retinal

detachment, uveitis or phthisis bulbi.

DIFFERENTIATED FROM RETINOBLASTOMA

(A) Axial ultrasound image with color Doppler shows a vessel running through the vitreous of both globes, from the posterior surface of the lens capsule to the optic disc (arrowhead). Echogenic foci suggesting hemorrhage are also seen (arrows).

(B) On pulsed Doppler examination, the vessel shows arterial flowIndian J Ophthalmol. 2009 Jan-Feb; 57(1): 53–54.

PMCID: PMC2661510

Bilateral persistent hyperplastic primary vitreous

Axial CT image shows diffusely hyperdense attenuation of vitreous in both globes, suggesting hemorrhage.

Subtle linear structures are also seen (arrowheads), representing hyaloidartery in Cloquet's canal

Absence of calcification

Indian J Ophthalmol. 2009 Jan-Feb; 57(1):

53–54.

PMCID: PMC2661510

Bilateral persistent hyperplastic primary

vitreous

COATS’ DISEASE (PRIMARY RETINAL

TELANGIECTASIA)(FIRST DESCRIBED IN 1908 BY GEORGE COATS)

Shields et al. defined Coats’ disease as ‘Idiopathic retinal teleangiectasia associated with intraretinal exudation and frequent exudative retinal detachment without signs of appreciable retinal or vitreal traction’ .

diagnosed in the first decade of life

mild forms -can present well into adulthood

Inheritenace-

mostly sporadic

may be a genetic cause

> 75 % of patients are male

95% of the cases are unilateral.

no clear racial predilection.

The occurrence of retinal telangiectasis and exudation bilaterally, in female patients, or in adults should prompt a search for non-Coats causes of these findings.

PRESENTATION AND CLINICAL FINDINGS:

The most common presenting signs of Coats’ disease are –

decreased visual acuity, strabismus and leukocoria

.

rarely reveals anterior segment findings

severe cases may show-

corneal edema

anterior chamber shallowing

cells and flare in the anterior chamber

neovascular glaucoma.

posterior segment findings range from –

mild peripheral telangiectasia of the retinal vasculature to florid exudation with total retinal detachment.

more than half the telangiectasias are found anterior to the equator.

the telangiectatic vessels appear to have a predilection for the temporal and inferior quadrants.

telangiectasias may be accompanied by grape-like clusters of microaneurysms, fusiform dilation of retinal arterioles (“light bulb aneurysms”), sheathing of retinal vessels, or venous beading.

Despite the peripheral location of the telangiectasias, the intraretinal and subretinal exudates often migrate toward the macula, leading to severe visual loss

In cases of massive exudation, a dense nodule may form in the macula.

Formation of a fibrotic nodulein the central macula is associated with aparticularly poor visual prognosis.

D e c e m b e r 2 0 0 9 • R e v i e w o f O p h t h a l m o l o g y

D e c e m b e r 2 0 0 9 • R e v i e w o f O p h t h a l m o l o g y

Telangiectasias temporal to the macula Exudation in the posterior pole

Classification( Shields et al)in 2000

Stage -1. Retinal telangiectasia only

2 .Telangiectasia and exudation(2A, extrafoveal exudation; 2B, foveal exudation)

3a .Exudative subtotal retinal detachment

3b. Exudative total retinal detachment

4. Total retinal detachment and glaucoma

5.Advanced end-stage disease

ANCILLARY TESTING

Fluorescein angiography

Ultrasound

Computerized tomography (CT)

Magnetic resonance imaging (MRI)

FLUORESCEIN ANGIOGRAPHY

areas of telangiectasia(early hyperfluroscence)

may also show microaneurysms,

areas of capillary nonperfusion,

or retinal neovascularization

Areas of anomalous vasculature will leak in the late phases of the angiogram

D e c e m b e r 2 0 0 9 • R e v i e w o f O p h t h a l m o l o g y

ULTRASOUND

subretinal opacities due to cholesterolosis present from the exudates

retinal detachment

Optical coherence tomography

evaluate the extent of intraretinal and subretinal fluid

exudates or fibrosis in the macula

retinoblastoma coats

CT solid tumours

and calcifications

scan is clear of these

lesions

MRI T 1 -weighted image

will show a

hyperintense

mass,

T 2 -weighted image

shows a hypointense

mass

exudate in Coats’

disease is hyperintense

on both T 1 -

weighted

T 2 -weighted MRI

images.

MRI(use of gadolinium

)

enhances

the solid tumours

not seen

Calcification in coats disease is seen rarely –

intraocular bone formation

advanced Coats’ disease(20%)

retinoblastoma coats

scattered submacular

multifocal focal

varies in size metaplastic changes in RPE

TREATMENT(OPHTHALMOLOGICA 2012;227:175–182):

Stage Treatment

Mild disease (1, 2) without progression Observation – no treatment

Mild disease (1, 2) with progression Laser photocoagulation/cryotherapy

Advanced disease (3, 4) Vitreoretinal surgery

Advanced end-stage disease (5) Observation – no treatment

(with comfortable eye)

Advanced end-stage disease (5) Enucleation

(painful eye)

Adjuvant therapy Intravitreal triamcinolone

( long term saftey unknown ) anti -VEGF.

is unkno

TOXOCARIASIS: VISCERAL AND OCULAR LARVA

MIGRANS

Epidemiology

occurs worldwide

tropical regions

among rural populations

Transmission

ingestion of embryonated eggs (contaminated food or soil )

disease of young children

LIFE CYCLE

CLINICAL MANIFESTATIONS

Ocular larva migrans (OLM)

sole manifestation(without VLM)

unilateral.

hosp no.2192672

I.Diffuse chronic endophthalmitis (age 2–9 years):

decreased vision with floaters

chronic anterior uveitis , vitritis

snowbanking, macular edema, exudative retinal detachment

complications include tractional retinal detachment, cycliticmembrane, cataract, hypotony

poor prognosis

II.Posterior pole granuloma (age 6–14 years):

decreased visual acuity

relatively clear media

yellow-white granuloma 1–2 DD at the macula/papillomacularbundle

with retinal traction and vitreous bands

Central and peripheric subretinal granulomas with

two fibrous traction bands proliferating to the

periphery, detected by an examination of the eye

fundus in a 16-year-old adolescent with ocular larva

migrans

III.Peripheral granuloma (age 6 years–adult):

usually asymptomatic

yellow-white granuloma anterior to the equator with vitreous bands.

traction may cause macular heterotopia or retinal detachment (tractional or rhegmatogenous).

Atypical presentations :

1.Inflammation and swelling of ONH

2.Motile subretinal nematode

3.Diffuse chorioretinitis

Hosp.no :2113778

Visceral larva migrans

young children

results in hepatitis and pneumonitis as the larvae migrate through the liver and lungs

can also affect CNS,muscles and the heart.

DIAGNOSIS OF OLM

usually occurs in isolation.

diagnosis is usually based on history , clinical appearance.

A strong clinical suspicion and positive history such as-

Close contact with cats and dogs,

Poor hygiene and habits as geophagia.

Systemic symptoms as abdominal pain may be occasionally present(though not always).

There are several immunological tests used to diagnose visceral larva migrans;

not as reliable for ocular larva migrans.

Specific titres for Toxocara are assessed with ELISA , which uses antigens secreted by the larva to diagnose infection.

The sensitivity of ELISA is 75 % and its specificity is more than 90%.

Patients with ocular larva migrans usually have low or even negative titres.

Goldmann-Witmer coefficient

(level of specific IgG in aqueous humour/level of specific IgG in serum)/(total IgG in aqueous humour/total IgG in serum) >3.0

is suggestive of intraocular antibody production,

Can help to establish the diagnosis .

OCT and B-scan ultrasonography can be performed .

IMAGING STUDIES

OCT:

OCT of a toxocara granuloma –

a reflective mass above the level of the RPE.

detect the presence of intraretinal, subretinal or sub- RPE fluid

In a case of diagnosed OLM a granulomatous mass was present superior-temporal to the right optic discOCT of this large granuloma revealed an elevated lesion with associated intraretinal cyst-like formations

In vivo diagnostic imaging of ocular toxocariasis( Clin Exp Optom 2009; 92: 2: 146–149)

B SCAN:

can be used to demonstrate -

vitreous traction

subclinical retinal detachment

hosp no.:2113778

access structures not visible ophthalmoscopically

rule out the presence of calcification

vitreous inflammation may present as low amplitude echoes

TREATMENT

albendazole (adults: 800 mg orally twice daily for two weeks; children: 400 mg orally twice daily for two weeks).

concomitant prednisolone(1.5 mg/kg for adults; 1.0 mg/kg for adults) tapered over a few months.

Mebendazole is an alternative to albendazole (100 to 200 mg orally twice daily for five days),

Diethylcarbamazine (DEC) (3 to 4 mg/kg/day for 21 days, starting at 25 mg/day for adults) has greater side effects than albendazole .

In complicated cases, surgical intervention may be warranted.

7 Yr/M Hosp .No.: 2113778

Presenting complaint-(LE) DOV and floaters.

Vision (LE)-6/18,N10

Anterior segment- (LE) sluggish pupillary reaction

cells in anterior vitreous

Posterior segment:

Toxoplasma IgM : negative

Mantoux: negative.

Chest xray: normal

Blood investigations : normal.

Started on course of albendazole,tapering dose of steroids and epitoin

Vision improved to 6/9 ,N6 after 4 months.

6/6 ,N6 after 12 months.

Differentiated from retinoblastoma:

In acute nematode endophthalmitis- severe inflammation, cellular reaction and vitreous tractional bands.

Vitreoretinal tractions and secondary cataracts are rare in

retinoblastoma.

Toxocara granuloma ,shows retinal contraction and distortion

around the mass, this is not seen in comparable size

retinoblastoma mass.

RETINOPATHY OF PREMATURITY

Retinopathy of prematurity (ROP),formerly known as retrolental

fibroplasia because of its end-stage appearance, is a developmental

vascular proliferative disorder that occurs in the retina of preterm

infants with incomplete retinal vascularization

Risk factors

The most important risk factor for developing ROP is prematurity.

Low birth weight

low gestational age

assisted ventilation for longer than one week

surfactant therapy, high blood transfusion volume

hyperglycemia, and insulin therapy

The five stages indicate the increasing severity of disease:

Stage 1 : (demarcation line)flat white line that demarcates the vascular and avascular retina.

Stage 2: (ridge )in region of demarcation line ,has height and width,extend above the plane of the retina.

Stage 3: (extraretinal fibrovascular proliferation)new blood vessels and fibrous tissue grow along the ridge and often extend into the vitreous .

Stage 4 :partial retinal detachment.

4A and 4B,:detachment excluding or including the macula, respectively

Stage 5 : total retinal detachment

.

Screening criteria

All infants with-

birth weight ≤1500 g or

a gestational age (GA) of less than 30 weeks,

as well as those with birth weight between 1500 g and 2000 g or

a GA of more than 30 weeks whose clinical course places them at increased risk for ROP (as determined by the attending clinician)

as per the 2006 Joint Statement of the American Academy of Pediatrics (AAP) Section on Ophthalmology, the American Academy of Ophthalmology (AAO), and the American Association for Pediatric Ophthalmology and Strabismus (AAPOS).

TREATMENT

Standard treatment consists of ablation of the peripheral avascular retina by laser photocoagulation or cryotherapy .

Photocoagulation

Laser photocoagulation, using the diode or argon laser, has

become standard treatment for ROP.

Cryotherapy

Cryotherapy was the only proven treatment for ROP until the early

1990s, but it has been replaced by laser photocoagulation as

standard therapy.

OPTIC DISC ABNORMALITIES

Optic disc coloboma

sharply defined, white, inferiorly decentered excavation of the optic disc

inferior neuroretinal rim is thin or absent.

defect may extend inferiorly

involve the adjacent retina and choroid

unilateral or bilateral

with equal frequency and may be sporadic or inherited

CLINICAL FEATURES:

Visual loss is variable and difficult to predict based upon disc appearance.

Colobomas of the iris and ciliary body often coexist.

Other coexisting ocular malformations –

orbital cyst ,

iris heterochromia , and

retinal venous malformations

ASSOCIATED SYSTEMIC MANIFESTATIONS:

renal coloboma (papillorenal) syndrome an autosomaldominant trait.

renal manifestations -vesicoureteral reflux, renal hypoplasia, renal failure, and chronic nephritis.

CHARGE syndrome , Walker-Warburg syndrome , focal dermal hypoplasia , Aicardi syndrome , Goldenhar syndrome , linear sebaceous nevus syndrome , and Noonan syndrome

Difference from retinoblastoma:

Ophthalmoscopy: clearly defined depressed lesion

Coexisting iris coloboma.

MYELINATED NERVE FIBRES:

Myelinated nerve fibers appear as striated white patches with feathery borders .

caused by differential myelination of individual axons

ophthalmoscopically evident in 0.3 to 0.6 percent of the population and are seen in 1 percent at postmortemexamination .

bilateral in 17 to 20 percent

they are continuous with the disc in 81percent.

Hosp no: 2034628

CLINICAL FEATURES:

Visual acuity - normal

enlarged blind spots and scotomas can occur

high myopia and amblyopia can occur

may progress after birth

rarely may be acquired

may be inherited in an autosomal dominant fashion (component of the Gorlin syndrome )

No particular ophthalmologic follow-up is necessary.

Differentiated from retinoblastoma by its typical clinical appearance.

MORNING GLORY SYNDROME:

enlarged orange pink disc at the centre of a peripapillary excavation .

surrounded by chorioretinal pigmentation, and a white tuft of glial tissue overlies its central portion.

blood vessels emanate radially from the disc, and peripapillaryarteriovenous communications can occur.

Demogrphy:

usually unilateral

more common in females, rare in African-Americans .

Clinical featurs:

They can be associated with congenital cataracts

Visual acuity typically is 20/200 to finger counting

Acquired visual loss can occur from-

serous retinal detachment

retinal folds and

subretinal neovascularization.

VITREORETINAL DYSPLASIA

Caused by faulty differenciation of retina and vitreous.

In isolation or assosiated with systemic abnormalities like-

Norrie disease,incontinentia pigmenti ,Warburg syndrome.trisomy 13, trisomy 18

Signs:

Congenital blindness with roving eye movments in bilateral cases.

Leukocoria.

Microphthalmos,shallow anterior chamber and elongated ciliaryprocesses.

Norrie disease : X-linked disorder associated with microcephaly, congenital blindness, deafness, and progressive neuropsychiatric illness .

Incontinentia pigmenti : XL dominant. Lethal in utero for boys.

vesicobullous rash on trunk, malformed teeth ,hair ,nails and bones.

Warburg syndrome: AR. Presents with congenital muscular dystrophy.

Neonatal death is common.

Medulloepithelioma

non hereditary tumor

usually unilateral

derived from the immature embryonic medullary epithelium usually the ciliary body.

Clinical feature:

usually occur in early childhood

with leukocoria and poor vision and

typically a vascularized iris mass, this greyish or salmon-colored.

tumor may be polycystic

cystic fragments may be found liberated into the aqueous humor or vitreous body

growth is slow

60 to 90% -malignant, locally invasive and distant metastasis is rare

smaller tumors-local resection

recurrence-enucleation

Differences from retinoblastoma:

Not familial

Almost always unilateral

Often multicystic

Involves ciliary body region rather than posterior

fundus

Can appear as tumourous cyclitic membrane(unusual in

retinoblastoma).

Retinal Astrocytomas:

Definition:

Benign neuroglial tumor that arises from retinal astrocytes.

Key Feature:

Translucent to opaque white inner retinal tumor.

Associated feature:

Tuberous sclerosis in many affected individuals, especially those who have bilateral, multifocal retinal lesions.

Epidemiology and pathogenesis

arises early in life

frequently detected in childhood or adolescence.

affects both sexes equally.

risk factors for development of an astrocytoma of the retina include tuberous sclerosis and possibly neurofibromatosis .

Hosp. no:22238383

yellow semitransparent round plaque or

nodule

large elevated mulberry like lesion

mixed type ,calcified centrally

Diagnosis and ancillary testing:

Fluorescein angiography

Prominent superficial vascular network in the arterial phase followed by late leakage and staining.

Treatment

Mostly no treatment, since most of the tumors are static.

If they enlarge progressively causing blind, painful eye, enucleation seems to be the only effective treatment.

Differences from retinoblastoma:

Calcification in astrocytoma is-usually glistining yellow

retinoblastoma is – dull chalky white.

Clinical evidence of tuberous sclerosis and possibly neurofibromatosis support the diagnosis of astrocytichamartoma.

Vitreous hemorrhage

Vitreous hemorrhage causes leukocoria when there is extensive organization of the blood into a clot before degradation .

Conditions:

• Hemorrhagic disease of the newborn

• Advanced ROP

• Persistent fetal vasculature

• Trauma

• Leukemia or other blood dyscrasias

Differences from retinoblastoma:

• Ophthalmoscopy : intravitreal location without retinal

involvement

• B-scan: does not disclose a tumor pattern.

Congenital cataract:

two third of the cases are bilateral.

various causes –genetic mutations,chromosomalabnormalities,metabolic disorders ,intrautrine insult etc.

Management:

Laboratory evaluation

may not be necessary if the history and examination reveal a definitive etiology for the cataract (eg, a family history of heritable cataracts, associated ocular disease or trauma, or obvious syndrome/chromosomal defect).

Laboratory evaluation - Urine for reducing substances after ingestion of galactose-containing

milk (eg, human or cow's milk), and possibly urine amino acids and red cell galactokinase

Toxoplasmosis, rubella, CMV, herpes simplex, and varicella titers and syphilis serology

Calcium, phosphate, and blood sugar (to exclude metabolic disorders, such as diabetes, hypoparathyroidism)

Karyotype and/or other genetic testing

Surgical management:Depends upon the age of the child, laterality and density of the cataract.

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