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

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Presentation transcript:

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