PHACOMATOSES

1
PHACOMATOSES

• NEUROFIBROMATOSIS
• TYPE I (peripheral)
• 1/4000
• AD
• Chr. 17 (ras TSG)
• Neural tumours
• Skeletal defects
• Skin
• Miscallaneous

2
Ocular 1) Orbit 2) Eyelids 3) Iris 4) Cornea 5)
Glaucoma 6) Fundus
3
Type II (central)

• 1/40000
• Chr 22
• Bilateral Acoustic neuromas
• CNS tumours
• Ocular
• cataract
• combined hamartoma of retina and RPE
• EO motor defects 10

4
TUBEROUS SCLEROSIS

• 1/10000
• AD
• Chrom 9 (TSC1-hamartin), 16( TSC2- tuberin) TSG
• 1) Adenoma sebaceum (85)
• 2) Epilepsy (90)
• 3) Mental retardation (60)
• Skin
• Astrocytic brain hamartoma
• Visceral hamartoma

5
Ocular Astrocytic retinal hamartoma (50)
6
STURGE WEBER
Sporadic 1) Port wine mark 2) Ipsilateral
meningeal angiomas (epilepsy, mental impairment)

• Ocular
• Ipsilateral glaucoma
• Blood in Schlemms canal
• Cavernous choroidal haemangioma
• Heterochromia iridis
• Serous RD
• ? riskfor expulsive haem., choroidal effusion

7
VON HIPPEL LINDAU
1/36000 Chrom. 3 AD Presentation 2nd-3rd
decade NO major skin involvement 1) Retinal
capillary angioma 2) Cerebellar
haemangioblastoma 3) Renal cell
carcinoma Visceral cysts Phaechromocytoma Polycyta
emia
8

• Ocular
• Retinal capillary haemangioma (50)
• Multi-, bi-lateral
• Red-orange intraretinal mass with prominent
  feeder vessels (mainly for the peripheral)
• lipid exudation
• Vit haemorhage
• Serous RD
• FFA late leakage
• TREAT (laser, cryo)gt success normal feeding
  vessels.

9
Neurology referral to all. MRI CNS U/S- CT
abdomen VMA
10
ATAXIA TELANGIECTASIA
AR Chrom. 11 1) Cerebellar ataxia 2)
Oculocutaneous telangiectasia 3)
Immunodeficiency 4) Chromosomal instability 5) ?
v of malignancies 6) Early death 7) Seborhoic
dermatitis, pigmentary skin changes 8) Mental
retardation, ? growth 9) testicular-ovarian
atrophy
11

• Ocular
• Conj. Telangiectasia
• Oculomotor apraxia
• Strabismus
• ? convergence
• Nystagmus

12
WYBURN-MASON
Sporadic 1) Racemose haemangioma ( unilat., ?VA
80- vasc. steal) 2) Ipsilateral cranial lesions
( midbrain, post. Fossa- 80) Veins- arteries
same colour NO treatment FFA no leaking No
constant cutaneous lesions Proptosis (orbital
rac. Haem.) Risk of massive haemorrhage with
ipsilateral dental or facial surgery
13
KLIPPEL-WEBER-TRENANAUX AD Cutaneous vascular
lesions at birth(limbs) Uncommon ocular
involvement
CUTIS MARMARATA TELANGIECTASIA CONGENITA Sporadic
Brain-Eye