Transcript phacomatoses

PHACOMATOSES
•NEUROFIBROMATOSIS
TYPE I (peripheral)
1/4000
AD
Chr. 17 (ras TSG)
• Neural tumours
•Skeletal defects
•Skin
•Miscallaneous
Ocular
1) Orbit
2) Eyelids
3) Iris
4) Cornea
5) Glaucoma
6) Fundus
Type II (central)
1/40000
Chr 22
Bilateral Acoustic neuromas
CNS tumours
Ocular
•cataract
•combined hamartoma of retina and RPE
• EO motor defects 10%
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
Ocular:
Astrocytic retinal hamartoma (50%)
STURGE WEBER
Sporadic
1) Port wine mark
2) Ipsilateral meningeal angiomas (epilepsy, mental
impairment)
Ocular:
• Ipsilateral glaucoma
• Blood in Schlemm’s canal
•Cavernous choroidal haemangioma
• Heterochromia iridis
• Serous RD
•  riskfor expulsive haem., choroidal effusion
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
Polycytaemia
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)> success: normal feeding vessels.
Neurology referral to all.
MRI: CNS
U/S- CT: abdomen
VMA
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
Ocular:
• Conj. Telangiectasia
• Oculomotor apraxia
• Strabismus
•  convergence
• Nystagmus
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
KLIPPEL-WEBER-TRENANAUX
AD
Cutaneous vascular lesions at birth(limbs)
Uncommon ocular involvement
CUTIS MARMARATA
TELANGIECTASIA CONGENITA
Sporadic
Brain-Eye