Leukocoria & Childhood Tumors

1. persistent primary vitreous

2. Coat’s disease

3. ocular toxocarisis

4. ROP

5. retinal hamartoma

6. toxoplasmosis

7. posterior uveitis

8. cataracts

9. strabismus

10. anisometropia

11. high RE

12. retinoblastoma

what are the differentials for leukocoria?

toxocariasis

• etiology: roundworms (infected dogs/cats), more common in warm climates

• typically in children (avg age of onset: 8.1y)

• typically unilateral signs:

  • floaters

  • pars planitis

  • chorioretinitis

  • vitritis

  • RD

  • peripheral granuloma w/ or w/o traction bands

retinal hamartoma

• benign, non-cancerous tumor

• many are thought to be congenital

• consist of glial cells

• combined or astrocytic

combined hamartoma

• unilateral

  • if bilateral, associated w/ neurofibromatosis type 2

• can be anywhere in retina

• gray tumor

• all involving RPE, retina, & vitreous

astrocytic hamartoma

• composed of glial cells (mostly astrocytes)

• lesions at/near optic disc (posterior pole)

• pale, multinodular tumors

• associated w/ tuberous sclerosis

tuberous sclerosis

• uncommon genetic disorder that causes non-cancerous tumor development throughout the body

• usually diagnosed in infancy

• sx are related to secondary complications from tumors

retinoblastoma

• primary malignant tumor of neuroectodermal origin arising from the nucleated layers of the retina

• most common primary eye cancer of childhood

• if left untreated, it grows to eventually fill the entire cavity of the eye & eventually spread extra ocularly

• can metastasize via the ON or choroidal blood supply

save the child’s life

what is the primary tx goal for treating retinoblastoma?

save eye/vision

what is the secondary tx goal for treating retinoblastoma?

bilateral

what is the laterality of the hereditary/germline form of retinoblastoma?

unilateral

what is the laterality of the non-hereditary/somatic form of retinoblastoma?

10

only __% of germline cases of retinoblastoma have a +FHx

40

__% of retinoblastoma cases are hereditary/germline

60

__% of retinoblastoma cases are non-hereditary/somatic

5

__% of hereditary/germline cases of retinoblastoma develop another primary intracranial malignancy in childhood that are typically difficult to treat

30

__% of hereditary/germline cases of retinoblastoma will develop a non-ocular neoplasm by age 40

F

T/F: non-hereditary/somatic cases of retinoblastoma have a risk of passing it along to their children

T

T/F: non-hereditary/somatic cases of retinoblastoma have no predisposition to developing other forms of cancer later in life

2

2/3 of retinoblastoma tumors develop by __y of age

95

__% of retinoblastomas develop by 5y of age

13mo

the mean age of detection for bilateral retinoblastoma:

24mo

the mean age of detection for unilateral retinoblastoma:

endophytic

retinoblastoma tumor that grows toward the vitreous

exophytic

retinoblastoma tumor that grows from outer retina toward the choroid, causing elevation of the retina & possible serous detachment

mixed growth

type of retinoblastoma that is a combo of endophytic & exophytic growth, majority of cases

mixed growth

what type of growth pattern is majority of cases of retinoblastoma?

diffuse

type of retinoblastoma growth, only 1-2% of cases, tumor invades the retina & produces plaque-like thickening, difficult to dx

1. local therapy

2. IV or intra-arterial chemo

3. brachytherapy

4. external beam radiation

5. surgical enucleation

what are the tx options for retinoblastoma?

toxocariasis

retinal astrocytic hamartoma

combined retinal hamartoma

dermoid cyst

• benign

• formed when a piece of surface ectoderm is pinched off in bony suture line where the tissue will gradually form a cyst

• lined w/ normal keratinizing stratified squamous epithelium w/ various adnexal structures in the wall

• contents include: keratin, sebaceous secretions & hair

• often attached to the bone at the frontozygomatic or frontonasal suture lines

• smooth, painless, oval masses

• palpable

• only need removal if disrupting orbit/orbital structures

lipodermoid

• benign

• solid tumors that present subconjunctivally on the lateral bulbar surface over the LR muscle

• can be removed if causing ocular discomfort or significant corneal astigmatism that isn’t manageable

conjunctival dermoid

• benign

• congenital

• well circumscribed

• usually inferotemporal

infantile hemangioma

• benign

• arise in infancy, stabilize, then spontaneous involution b/t the age of 1-8yo

• can be multiple & involve the head & neck region

• strawberry nevus

• can cause ptosis, globe displacement, proptosis, strabismus, & astigmatism if extends into orbit

infantile hemangioma

what is the most common benign orbital tumor of childhood?

lymphangioma

• benign

• typically diffuse unencapsulated choristomatous primitive vascular tumors that infiltrate the normal tissues of the lid & orbit & become apparent in the 1st decade

• thought to be a combined vascular malformation w/ both the venous & lymphatic components

• multilobular, involve conjunctiva, lids, orbit, scalp & sinuses

  • most commonly in superior & inferior nasal orbit

• rarely spread intracranially

• highly variable progression

  • typically progress until mid-adolescence & then stabilize

  • don’t regress

• can induce ptosis, proptosis, ON compression, induced astigmatism, & strabismus

• can surgically debulk but cannot excise completely

optic nerve glioma

• benign

• most common sign: optic nerve pallor

  • also can get proptosis & EOM restrictions

• can occur anywhere along the ON or hypothalamus

• associated w/ neurofibromatosis type 1

• surgical excision can be considered if it progresses into the optic canal to protect the chiasm or to reduce extreme proptosis

optic nerve glioma

what is the most common pediatric optic nerve tumor?

rhabdomyosarcoma

• malignant

  • 94% survival rate

  • secondary malignant neoplasms occur

• avg age of onset: 8-10yo

• arises from undifferentiated pluripotent mesenchymal cells of the orbit

• characteristically develops superior nasally in the orbit, displacing the eye down & out

• quick growing

• tx:

  • chemo

  • radiation

  • surgery

rhabdomyosarcoma

what is the most common primary malignant tumor in children?

neuroblastoma

• arises from the adrenal medulla in infants & young children

• originated in abdomen in most

• 10% of pediatric cancers

• 90% occur in kids under 5 but can occur up to age 20

• orbital involvement occurs as a metastasis from elsewhere

  • poor prognosis if orbital involvement

• common ocular signs: periorbital redness (raccoon eyes)

dermoid cyst

limbal dermoid

infantile hemangioma

infantile hemangioma

lymphangioma

optic nerve glioma

rhabdomyosarcoma

neuroblastoma

neuroblastoma