Neoplasms

Question 1

Retinoblastoma

• mutation
• non-heritable vs heritable
• symptoms
• dx

Answer 1

most common ocular cancer in children
- mutation in RB1 gene on chromosome 12

fills eye - periocular tissue - brain

Non-heritable Form/Acquired: 66% and unilateral
Heritable Form: 33% and bilateral

Dx by Age 5

White Pupil + Strabismus

Dx: B-scan to look for calcifications + notate number, location and size of tumors

Question 2

Endophytic vs Exophytic

Answer 2

Exophytic: grow into subretinal + may seed and lead to retinal detachment (rapidly symptomatic)

Endophytic: white, nodular mass that extends into vitreous
- not as severe

Question 3

Persistent Fetal Vasculature

Persistent Hyperplastic Primary Vitreous

Answer 3

due to a remnant of hyaloid system (Mittendorf dot or Bergmeister Papilla)

membrane can constrict and push lens or iris anteriorly leading to a shallow AC and Angle Closure Glaucoma

Tx: remove lens and membrane

Question 4

Coats Disease

Answer 4

Idiopathic, non-hereditary + mostly boys

abnormal development of blood vessels in eye
-telangiectatic(broken capillaries) and aneurysmal retinal vessels associated with subretinal exudate

80% unilateral

Question 5

Coloboma ~ Choroid

• what happens
• effects

Answer 5

failure of fetal fissure to close (always inferior) leading to missing tissue from retina + choroid and neovascularization around coloboma

can lead to Cataract, Glaucoma, Nystagmus, Iris Coloboma

Question 6

Toxocariasis

• what is it
• what happens
• tx

Answer 6

Roundworm Toxocara Canis (dog)

ingestion of eggs ~ELISA for antibodies

usually unilateral, males, granuloma in posterior pole or periphery and vitritis

Treat with Steroids

Question 7

Horner’s Syndrome

Answer 7

Ptosis, Miosis, and Anhydrosis unilaterally

Congenital or Pathologic

Neuroblastoma: most common malignant extracranial solid tumor of childhood at birth -- most common cause of acquired horner's syndrome
- Dx by 5 years old 
- 33% start in adrenal gland 
- 25% start in abdomen 
near spine in chest, neck, pelvis

Question 8

Leukemia Types

- visual manifestations

Answer 8

Acute or Chronic
AML: Acute Myelogenic Leukemia (adults)
ALL: children

Roth Spots, CWS, Venous tortuosity + retinopathy

Infiltrations in ocular tissue, CNP, Optic Nerve Edema

AC: Uveitis