1. 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

2. 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

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

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

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

6. 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

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

8. 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

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

10. 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%

11. 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

12. 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

13. 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

14. 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

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

16. 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

17. 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

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