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Phakomatoses(Ophthalmology)

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Phakomatoses(Ophthalmology)

  1. 1. Phacomatoses Dr Shylesh B Dabke Resident Dept of ophthalmology KMC Mangalore
  2. 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.
  3. 3. Includes: Common:  NF 1  NF 2  Tuberous sclerosis  Sturge-Weber Syndrome  Von Hipple Lindau disease  Wyburn Mayson syndrome
  4. 4. Uncommon Klipple trenaunay Weber syndrome Louis bar syndrome Diffuse congenital hemangiomatosis Oculodermal melanocytosis Basal cell nevus syndrome
  5. 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. 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. 7. Ocular Findings  Lisch nodules.  Neurofibroma or plexiform neurofibroma of eyelid.  Congenital glaucoma.  Optic nerve or chiasmal gliomas.
  8. 8. Orbital involvement.  Strabismus.  Retinal abnormalities.
  9. 9. Uveal tract.  Lignes grises – Hyperplastic intrastromal nerves.  Conjunctival hamartomas.
  10. 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. 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. 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. 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. 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. 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. 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. 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.
  18. 18. Cutaneous Lesions Adenoma sebaceum Ash leaf spots Shagreen patch Confetti lesions Periangual fibroma
  19. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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

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