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Flashcards in Phakomatoses Deck (14)
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0
Q

Sturge-Webber (non eye findings)

A
  • leptomeningeal vascular malformations
  • central calcifications
  • mental retardation
  • pheochromocytoma
1
Q

Describe Sturge-Webber (eye findings)

A

Non hereditary

Port wine stain (nevus flammeus)

  • dilated conj and episcleral vessels
  • cong or juvenile glaucoma (25%, esp if upper lid involved)
  • iris heterochromia (iris angiomas)
  • cb angiomas
  • diffuse cavernous choroidal hemangioma (tomato ketchup)
2
Q

klippel trenaunay webber

A

Variant of Sturge weber with cutaneous nevus flammeus, hemangiomas, varicosities, intracranial angiomas, and hemihypertrophy of limbs

3
Q

Von Hippel Lindau

A

AD, incomplete penetrance

Hamartomas: eye, brain, kidney/adrenals

Eye: retinal angioma (fed by dilated vessel). Vessel can leak. Treat the leak, not the lesion. May be multi focal, bilateral.

Brain: CNS tumors (hemangioblastoma of cerebellum, pons, medulla, spinal cord)

Kidney: tumor of kidney, pancreas, liver, adrenals. 25% RCC, 5% pheochromocytoma

4
Q

Tuberous sclerosis

A

AD or sporadic

Triad: adenoma sebaceum, MR, epilepsy

Astrocytoma of retina or optic nerve (giant drusen)

Facial adenoma sebaceum
Ash leaf spots (fluoresce under woods light)
Shagreen patches
Periungal fibromas

CNS: subependymal hamartomas, MR, Sz

Other: cardiac rhabdomyoma, spontaneous pneumothorax from pleural cysts, renal angiomyolipomas, pheo

5
Q

Inheritance pattern of the phakomatoses?

A

All are AD with incomplete penetrance except:

  • Sturge weber (sporadic)
  • ataxia telangiectasia (AR)
  • wyburn mason (non-hereditary)
6
Q

Wyburn Mason

A

Aka racemose hemangiomatosis

  • racemose hemangioma of retina (AV malformation with markedly dilated and tortuous shunt vessels)
  • may have intraocular Hx or glaucoma
  • may have brain AV malformations, of orbit and facial bones, and small facial hemangiomas
7
Q

Ataxia Telangectasia

A

AR

  • prominent, dilated conj vessels. Impaired convergence, nystagmus, oculomotor apraxia
  • cutaneous telangiectasia in butterfly pattern
  • MR
  • cerebellar ataxia (cerebellar atrophy)
  • defective T cells and IgA deficiency (infections)
  • blood malignancy (leukemia, lymphoma)
8
Q

NF1: 7 diagnostic criteria

A

Need 2:

  • first degree relative
  • freckling of intertifinous areas
  • 2 lisch nodules
  • optic nerve glioma
  • 2 neurofibromas or 1 plexiform neurofibroma
  • osseous lesion
  • 6 cafe au lait spots (5 mm pre-pubescent, 15 mm post pubescent)
9
Q

What is a lisch nodule

A

Glial or melanocytic iris hamartoma

10
Q

Which condition gives you pulsating exophthalmos

A

NF1, absence of sphenoid wing

11
Q

Which phakomatosis gives you prominent corneal nerves

A

NF1

12
Q

Which phakomatoses can give you pheochromocytoma

A
  • Sturge weber
  • Von Hippel Lindau
  • tuberous sclerosis
  • NF2
13
Q

Can you have Lisch nodules in Nf2

A

No

You have:

  • bilateral CPA tumors (acoustic neuroma)
  • 1st degree relative with NF2 and either a unilateral acoustic neuroma or 2 of: meningioma, schwannoma, neurofibroma, glioma, PSC cataract

Think about pheo and other malignant tumors