PHACOMATOSES 1. Neurofibromatosis Type I (NF-1) - von Recklinghausen disease Type II (NF-2) - bilateral acoustic neuromas 2. Tuberous sclerosis (Bourneville disease) 3. von-Hippel-Lindau syndrome 4. Sturge-Weber syndrome

Neurofibromatosis type-1 - (NF-1) Most common phacomatosis Affects 1:4000 individuals Presents in childhood Gene localized to chromosome 17q11 Café-au-lait spots Increase in size and number throughout childhood Appear during first year of life

Fibroma molluscum in NF-1 Appear at puberty Pedunculated, flabby nodules consisting of neurofibromas or schwannomas Increase in number throughout life Frequently widely distributed

Plexiform neurofibroma in NF-1 Appear during childhood Large and ill-defined May be associated with overgrowth of overlying skin

Skeletal defects in NF-1 Facial hemiatrophy Mild head enlargement - uncommon Other - scoliosis, short stature, thinning of long bones

Orbital lesions in NF-1 Optic nerve glioma in about 15% Spheno-orbital encephalocele Sagittal MRI scan of optic nerve glioma invading hypothalamus Glioma may be unilateral or bilateral Axial CT scan of congenital absence of left greater wing of sphenoid bone Causes pulsating proptosis without bruit

Eyelid neurofibromas in NF-1 Nodular Plexiform May cause mechanical ptosis May be associated with glaucoma

Intraocular lesions in NF-1 Lisch nodules Congenital ectropion uveae Very common - eventually present in 95% of cases Uncommon - may be associated with glaucoma Choroidal naevi Retinal astrocytomas Rare - identical to those seen in tuberous sclerosis Common - may be multifocal and bilateral

Ocular features of NF-2 Very common - presenile cataract Common - combined hamartomas of RPE and retina

Tuberous sclerosis (Bournevill disease) Autosomal dominant Triad - mental handicap, epilepsy, adenoma sebaceum Adenoma sebaceum Ash leaf spots Shagreen patches Around nose and cheeks Appear after age 1 and slowly enlarge Hypopigmented skin patches In infants best detected using ultraviolet light (Wood’s lamp) Diffuse thickening over lumbar region Present in 40%

Systemic hamartomas in tuberous sclerosis Astrocytic cerebral hamartomas Visceral and subungual hamartomas Usually asymptomatic and innocuous Kidneys (angiomyolipoma), heart (rhabdomyoma) Slow-growing periventricular tumours May cause hydrocephalus, epilepsy and mental retardation

Retinal astrocytomas in tuberous scleritis Innocuous tumour present in 50% of patients May be multiple and bilateral Early Semitranslucent nodule White plaque Advanced Dense white tumour Mulberry-like tumour

Systemic features of v-H-L syndrome Autosomal dominant CNS Haemangioblastoma Visceral tumours MRI of spinal cord tumour Tumours - renal carcinoma and phaeochromocytoma Cysts - kidneys, liver, pancreas, epididymis, ovary and lungs Polycythaemia Angiogram of cerebellar tumour

Retinal capillary haemangioma in v-H-L syndrome Vision-threatening tumour present in 50% of patients May be multiple and bilateral Early Tiny lesion between arteriole and venuole Small red nodule Advanced Associated dilatation and tortuosity of feeder vessels Round orange-red mass

Complications of retinal capillary haemangioma Leakage Exudative retinal detachment Hard exudate formation Epiretinal membrane formation

Treatment options of retinal capillary haemangioma Argon laser photocoagulation - small peripheral tumours Cryotherapy - larger peripheral tumours External beam radiotherapy - if unresponsive to cryotherapy Before treatment - dilated feeder vessels Following treatment - normal feeder vessels

Systemic features of Sturge-Weber syndrome Naevus flammeus Meningeal haemangioma Congenital, does not blanche with pressure Associated with ipsilateral glaucoma in 30% of cases CT scan showing left parietal haemangioma Complications - mental handicap, epilepsy and hemiparesis

Ocular features of Sturge-Weber syndrome Glaucoma Buphthalmos in 60% May be associated with episcleral haemangioma Diffuse choroidal haemangioma Affected eye Normal eye