Phakomatoses

Question 1

NF is a disorder of what cells?

Answer 1

Schwann cells and melanocytes

-causes hamartomas of nervous system, skin and eye

Question 2

Bag of worms, S shaped upper eyelid

Answer 2

plexiform neurofibroma

NF

Question 3

juvenile pilocytic astrocytoma

Answer 3

NF

Question 4

Acoustic neuromas

Answer 4

NF2

Question 5

May be assoc with pheochromocytoma

Answer 5

NF2

Question 6

Diffuse cavernous choroidal hemangioma

Answer 6

Sturge Weber

-tomato ketchup fundus

Question 7

Leptomeningeal AVMs

Answer 7

Sturge Weber

Question 8

Retinal hemangioma or hemangioblastoma

Answer 8

VHL (chrom 3, eye, brain, kidney)

-can cause serous RD/macular edema

Question 9

Retinal capillary hemangioma

Answer 9

VHL

Question 10

Astrocytic hamartoma of retina

Answer 10

Tuberous sclerosis: adenoma sebacum, MR, epilepsy

Question 11

Ataxia telangiectasia

Answer 11

AR

-prominent dilated conj vessels, impaired convergence, nustagmus, oculomotor apraxia

Question 12

Racemose hemangioma of retina (AVM with markedly dilated and tortuous shunt vessels)

Answer 12

Wyburn Mason (nonhereditary)

Question 13

Retinal cavernous hemangioma

Answer 13

no association

• aneurysms filled with venous blood, cluster of grapes
• FA: fluid levels without leakage