2. • Syndromes characterized by hamartomas of the skin, eye, central
nervous system (CNS), and other viscera are collectively called
phacomatoses.
• These disorders produce significant visual and neurologic
disturbances.
• Although most of these syndromes arise from mutations in single
genes inherited in a Mendelian pattern, some have no apparent
hereditary basis.
5. Neurofibromatoses
Neuroectodermal tumors arising within multiple organs.
Autosomal dominant inheritance.
Two types :-
1.NF1 (Von Recklinghausen’s neurofibromatosis or Peripheral
Neurofibromatoses)
2.NF2 (central or bilateral acoustic neurofibromatosis)
6. Neurofibromatoses 1
The most common type of the two and the most common
autosomal dominant disorder.
Characterized by:
* Cafe´-au-lait spots.
* Peripheral neurofibromas.
* Lisch nodules.
7. Ocular Findings
Lisch nodules.
Neurofibroma or plexiform neurofibroma of eyelid.
Congenital glaucoma.
Optic nerve or chiasmal gliomas.
10. Neurofibromatoses 2
CNS tumors are the major feature in NF2.
Meningiomas, gliomas, and schwannomas are common, but
bilateral vestibular schwannomas are nearly always present.
Ocular findings may predate the onset of symptoms.
* Characteristic: PSCO or Wedge cortical cataract
* less common findings are retinal hamartoma and combined
hamartomas of the retina and retinal pigment epithelium
11. Tuberous Scleroses
Also known as Bourneville disease.
Vogt triad: Mental retardation
Seizures
Facial angiofibromas
Primary features of this disorder:
* Facial angiofibroma
* Ungual fibromas (multiple)
* Cortical tuber
* Subependymal nodule (giant cell astrocytoma)
* Multiple retinal astrocytomas
12. Hypopigmented lesions analogous to white spots of the skin
are occasionally seen in the iris or choroid.
Characteristic ocular manifestation of TS is the retinal
astrocytic hamartoma or Retinal Phakoma.
* Phakomas can develop anywhere in the fundus.
* Arise from astrocytes of sensory retina.
* vary in size from about half to twice the DD.
* Vision is rarely affected Significantly.
13. Three types
* Type1 :-
Flat, soft and semitransparent lesions
Usually at posterior pole
Boundaries are grey or faint yellow
* Type 2:-
Elevated,nodular and solid apparing masses
Usually near disc margin and also at midperiphery
* Type 3:-
Border is flat, soft and transparent
Centrally elevated and nodular
14. Von Hippel Lindau Disease
Autosomal dominantly inherited disorder of incomplete
penetrance manifesting both benign and malignant tumors of
many organ systems.
Most common abnormalities are vascular tumors
(hemangioblastomas) of the retina and CNS, most often the
cerebellum.
15. Retinal lesions usually become visible ophthalmoscopically
between ages 10 and 35 years, about a decade before the
peak clinical incidence of cerebellar disease.
Tumors are multiple in the same eye in about one-third of
cases and bilateral in as many as one-half of cases.
Tumors typically occur in the peripheral fundus, but lesions
adjacent to the optic disc have also been described.
16. The incipient retinal lesion appears as a minor, nonspecific
vascular anomaly or a small reddish dot in the fundus.
The lesion ultimately acquires the fully developed
appearance of a pink globular mass 1 to 3 or more disc
diameters in size.
The hallmark of the mature tumor is a pair of markedly
dilated vessels (artery and vein) running between the lesion
and the optic disc, indicating Significant arteriovenous
shunting.
Histopathologically, retinal angiomas - relatively well
formed capillaries - fluorescein angiography shows these
vessels to be leaky.
17. Transudation of fluid into the subretinal space - lipid
accumulation, retinal detachment - loss of vision.
Secondary degenerative changes including cataract and
glaucoma.
Management and prognosis
* cryotherapy or laser photocoagulation(Small lesions)
* Multiple treatment sessions may be necessary
* Early diagnosis increases the likelihood of successful
treatment.
Ocular lesions of VHL are asymptomatic prior to retinal
detachment - children known to be at risk for the disease
should undergo periodic ophthalmologic evaluation.
19. Sturge-Weber Syndrome
Encephalotrigeminal angiomatosis.
Characterstic lesions:-
* Cutaneous facial nevus flammeus ( in distribution of
branches of trigeminal nerve )
* Ipsilateral diffuse cavernous hemangioma choroid
* Ipsilateral meningeal hemangiomatosis
These lesions are always present at birth in affected patients
20. Unique among the 4 major neurocutaneous syndromes -
not a genetically transmitted.
Cutaneous Manifestations:
* Facial nevus flammeus/port wine stain
* zone of dilated telangiectatic cutaneous capillaries
* usually unilateral
CNS Manifestations:
* Ipsilateral leptomeningeal hemangiomatosis
* Atrophy of cortical parenchyma
* Lesions present at birth, detected by MRI or CT
* Meninges become irregularly calcified, detected by
Skull radiographs
21. Ocular Manifestations
* Increased conjunctival vascularity commonly
produces a pinkish discoloration.
* An abnormal plexus of episcleral vessels.
choroid is the site of the most significance - increased
numbers of well-formed choroidal vessels - bright red or
redorange color.
22. Glaucoma is the most common and serious ocular
complication(70% Cases).
Cause of elevated lOP is uncertain but is likely secondary to:
* Elevated episcleral venous pressure.
* Hyperemia of the Ciliary body with hypersecretion of
aqueous
* Or developmental anomaly of the anterior chamber
angle.
23. Management
SWS glaucoma is difficult to treat, and there is no universally
accepted treatment scheme.
Initial therapy with topical drops can be effective
Surgery is indicated when medical treatment is inadequate.
Adequate long-term pressure control can frequently be
achieved, although multiple operations are typically necessary.
A particular risk of glaucoma surgery - massive intraoperative
or postoperative exudation or hemorrhage - anomalous
choroidal vessels - rapid ocular decompression.
24. Wyburn-Mason
Syndrome
racemose angioma.
noninhereditary arteriovenous malformation of the eye and
brain.
Typically involving the optic disc or retina and the midbrain.
Ocular manifest - unilateral and congenital.
25. Lesions are not distinct tumors - Not a true phakomatoses.
Most patients have unilateral lesions.
Vision ranges from normal to markedly reduced in the
involved eye.
Intraocular hemorrhage and secondary neovascular
glaucoma are possible complications.
No treatment is indicated for primary ocular lesions.
26. Klippel – Trenaunay-
Weber syndrome
Triad of:
* Cutaneous hemangiomas extending over the limbs.
* Varicosities in the affected limb
* Hypertrophy of bone and soft tissue.
Ocular findings:
* Enophthalmos
* Conjunctival telangiectasia.
* Heterochromia iridis
* Iris coloboma
* Retinal varicosities
* Choroidal angiomas
27. Louis Bar Syndrome/Ataxia
Telangiectasia
Recessive inherited multisystem disease
Ocular lesions – * Bulbar conjunctival telangiectasia
* Oculomotor apraxia with Supranuclear
palsies, Nystagmus & Strabismus
CNS – progressive ataxia in childhood
28. Oculodermal Melanocytosis
Aka Nevus of Ota
Deep dermal pigmentation in distribution of first and
second divisions of Trigeminal nerve
Ocular findings :-
* Hyper pigmentation of sclera,conjunctiva,cornea and iris
* Increased incidence of uveal and orbital melanomas
* Glaucoma is also reported
29. Diffuse congenital
hemangiomatosis
Multiple small cutaneous hemangiomas.
Ocular findings
* Hemangiomas of iris,conjunctiva & lid.
* Abnormal chorioretinal vasculature
* Microphthalmos
* Galucoma
* Central system hemangiomas - cortical blindness.
30. Basal cell nevus syndrome
Multiple skin tumors
Autosomal dominant inheritance
Most lesions are benign
Ocular findings:-
* Congenital cataract
* Coloboma of choroid and optic disc
* Corneal leucomata