Eye in systemic dis


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Eye in systemic dis

  1. 1. OCULAR MANIFESTATIONS OF SYSTEMIC DISEASES Jeannette TÓTH Semmelweis University, Budapest Dept. of Ophthalmology
  2. 2. INTRODUCTION <ul><li>The eyes are frequently involved in diseases affecting the rest of the body </li></ul><ul><li>Ocular manifestations in certain multisystem disorders may offer a diagnostic clue </li></ul><ul><li>Sometime the eye involvement may be subtle enough to avoid detection unless the clinicians knows to look for it </li></ul>
  3. 3. THE CORNEA RELATED TO SYSTEMIC DISEASES <ul><li>DISEASES OF THE SKIN AND MUCOUS MEMBRANES </li></ul><ul><li>Atopic dermatitis, cicatricial pemphigoid, epidermolysis bullosa, erythema multiforme </li></ul><ul><li>DISORDERS OF COLLAGEN METABOLISM </li></ul><ul><ul><li>Ehlers-Danlos syndrome, Marfan syndrome </li></ul></ul>
  4. 4. THE CORNEA RELATED TO SYSTEMIC DISEASES <ul><li>COLLAGEN DISEASES </li></ul><ul><ul><li>Dermatomyositis, periarteritis nodosa, </li></ul></ul><ul><ul><li>rheumatoid arthritis, SLE </li></ul></ul><ul><li>METABOLIC DISEASES </li></ul><ul><li>Amyloidosis, cystinosis, glycogen storage disease, gout, hyperlipidemia </li></ul>
  5. 5. CATARACT RELATED TO SYSTEMIC DISEASES <ul><li>CHROMOSOMAL DISORDERS </li></ul><ul><li>Alport syndrome, Crouzon syndrome, myotonic dystrophy,Trisomy 18, Turner syndrome </li></ul><ul><li>DISEASES OF THE SKIN AND MUCOUS MEMBRANES </li></ul><ul><ul><li>Atopic dermatitis, pemphigus </li></ul></ul>
  6. 6. CATARACT RELATED TO SYSTEMIC DISEASES <ul><li>METABOLIC AND NUTRITION DISEASES </li></ul><ul><li>Aminoaciduria, diabetes mellitus, galactosemia, hypoparathyroidism, hypothyroidism, Wilson’s disease </li></ul><ul><li>INFECTIOUS DISEASES </li></ul><ul><ul><li>Congenital HSV, syphylis, CMV, rubella </li></ul></ul><ul><li>TOXIC SUBSTANCES </li></ul>
  7. 7. THE RETINA RELATED TO SYSTEMIC DISEASES <ul><li>CARDIOVASCULAR DISEASES </li></ul><ul><li>Aortic arch syndrome, hypertension and toxaemia </li></ul><ul><li>of pregnancy, occlusive vascular disease </li></ul><ul><li>COLLAGEN DISEASES </li></ul><ul><li>Dermatomyosistis, periarteritis nodosa, SLE, temporal </li></ul><ul><li>arteritis, Wegener granulomatosis </li></ul><ul><li>ENDOCRINE DISEASES </li></ul><ul><li>Diabetes mellitus, Cushing syndrome, </li></ul><ul><li>hyperthyroidism, hypothyroidism, hypoparathyroidism </li></ul>
  8. 8. THE RETINA RELATED TO SYSTEMIC DISEASES <ul><li>DISEASES OF THE SKIN AND MUCOUS MEMBRANES </li></ul><ul><ul><li>Pseudoxanthoma elasticum </li></ul></ul><ul><li>GASTROINTESTINAL AND NUTRITIONAL DISEASES </li></ul><ul><ul><li>Regional enteritis, vitamin A deficiency </li></ul></ul><ul><li>HEMATOLOGIC DISEASES </li></ul><ul><ul><li>Anaemias, leukemias, sickle cell disease, thrombocytopenia </li></ul></ul><ul><li>INFECTIOUS DISEASES </li></ul><ul><ul><li>Candida retinitis, parasites, viral infections, tuberculosis, HIV, HSV, HZV, CMV </li></ul></ul><ul><li>PHAKOMATOSES </li></ul><ul><li>METABOLIC DISEASES </li></ul>
  9. 9. THYROID EYE DISEASE (Graves’ ophthalmopathy) <ul><li>The diagnosis may not be obvious, although it is quite common! </li></ul><ul><li>The severity of the eye changes does not always relate to the severity of the endocrine problem </li></ul><ul><li>It is not known why some patients with thyroid imbalance have eye features and others do not </li></ul><ul><li>The link is immunological, though the details are unclear </li></ul><ul><li>Often the eye features develop out of phase with the thyroid </li></ul>
  10. 10. FEATURES OF THYROID EYE DISEASE <ul><li>Not all patients have all the signs and symptoms! </li></ul><ul><li>Puffiness of lids and conjunctiva, often worse in the morning </li></ul><ul><li>Discomfort and redness </li></ul><ul><li>Watering </li></ul><ul><li>Upper lid </li></ul><ul><li>Retraction due to overaction of Müller’s muscle (Dalrymple’s sign) </li></ul><ul><li>Lag (Von Graefe’s sign) </li></ul>
  11. 11. FEATURES OF THYROID EYE DISEASE <ul><li>Infiltrative ophthalmopathy </li></ul><ul><li>Enlargement of extraocular muscles </li></ul><ul><li>Proliferation of orbital fat and connective tissue </li></ul><ul><li>Protrusion (with poor eyelid closure, if severe  corneal damage) </li></ul><ul><li>Double vision, often worse in the morning </li></ul><ul><li>Visual failure from optic nerve compression (rare, but needs urgent treatment)! </li></ul>
  12. 12. PATHOGENESIS OF THYROID EYE DISEASE <ul><li>The disease is not completely understood </li></ul><ul><li>The existing knowledge suggests that the disease is likely to be </li></ul><ul><li>autoimmune in origin and linked to autoimmune thyroid disease </li></ul><ul><li>Cigarette smoking is commoner among patients with Graves’ </li></ul><ul><li>disease and smokers have a more severe ophthalmopathy </li></ul><ul><li>Orbital fibroblasts synthesize more glycosaminoglycans when </li></ul><ul><li>cultured under hypoxic conditions. </li></ul><ul><li>Glycosaminoglycans attract water  swelling of extraocular </li></ul><ul><li>muscles </li></ul><ul><li>Infiltration of orbital tissue by immune cells ant their activation, with </li></ul><ul><li>subsequent cytokine release leads to local cell proliferation </li></ul>
  13. 13. OPHTHALMIC PROBLEMES IN NEUROLOGICAL DISORDERS <ul><li>Multiple sclerosis </li></ul><ul><li>Stroke </li></ul><ul><li>Intracranial tumors </li></ul><ul><li>Benign intracranial hypertension </li></ul><ul><li>Facial palsy </li></ul>
  14. 14. MULTIPLE SCLEROSIS (demyelinisation) <ul><li>Optic (ON) neuritis is the most common manifestation (usually unilateral, but may be bilateral) and the presenting feature in about 25% of MS patients </li></ul><ul><li>About 60% of patients in the 20-40 years age group who present with ON will subsequently develop evidence of systemic demyelinisation! </li></ul>
  15. 15. SYMPTOMS OF OPTIC NEURITIS <ul><ul><li>Decreased visual acuity </li></ul></ul><ul><ul><li>Afferent pupillary defect (if unilateral or asymmetric) </li></ul></ul><ul><ul><li>Impairment of color vision </li></ul></ul><ul><ul><li>Pain with eye movements or pressure on the globe </li></ul></ul><ul><ul><li>Central or ceco-central visual field defect </li></ul></ul>
  16. 16. STROKE <ul><li>Homonymous hemianopia is the commonest finding </li></ul><ul><li>Often not recognized by the patient </li></ul><ul><li>Lesion within the optic path behind the chiasm (usually in the radiation passing through temporal and parietal areas to the occipital cortex) </li></ul><ul><li>Occlusion of the vertebrobasilar circulation may cause bilateral cortical lesions and marked visual disability </li></ul><ul><li>Many patients have reading difficulties </li></ul>
  17. 18. INTRACRANIAL TUMORS <ul><li>A tumor close to the optic nerve, chiasm or radiation may affect visual acuity or visual field </li></ul><ul><li>Check both visual field and visual acuity in patients with vague, but persistent and progressive complaints </li></ul><ul><li>Headache is not always present! </li></ul><ul><li>Look for papilloedema or atrophy of one or both optic nerve heads </li></ul>
  18. 19. PAPILLOEDEMA <ul><li>Is caused by impairment of axonic flow in the optic nerve </li></ul><ul><li>Does not impair visual acuity but increases the size of the blind spot </li></ul><ul><li>Optic atrophy implies death of nerve fibers and is associated with impairment of visual acuity, field or color vision </li></ul>
  19. 20. BENIGN INTRACRANIAL HYPERTENSION <ul><li>Papilloedema </li></ul><ul><li>Raised intracranial pressure </li></ul><ul><li>No tumor </li></ul><ul><li>Syndrome found in plump young women with persistent headache and menstrual irregularities </li></ul><ul><li>Cause unknown </li></ul><ul><li>Therapy: diuretics </li></ul><ul><li>Long-term monitoring by a specialist </li></ul>
  20. 21. FACIAL PALSY <ul><li>Weakness of eye closure </li></ul><ul><li>Patients at risk of corneal ulceration </li></ul><ul><li>Depending on severity of malfunction therapy consists of topical antibiotics (for lubrication and prevention of secondary infections), taping or temporary suturing of the eyelids </li></ul>
  21. 22. EYE PROBLEMS IN JOINT DISORDERS <ul><li>Some patients with joint disorders have inflammation of the coats of the eye (e.g. episcleritis, scleritis), other condition are associated with internal inflammation (iritis), some are a cause of dryness of the eye (sicca) </li></ul><ul><li>Rheumatoid arthritis </li></ul><ul><li>Ankylosing spondylitis </li></ul><ul><li>Reiter syndrome </li></ul><ul><li>Sjögren syndrome </li></ul><ul><li>Juvenile arthritis </li></ul>
  22. 23. RHEUMATOID ARTHRITIS <ul><li>Dry eye (discomfort, burning sensation) </li></ul><ul><li>Scleritis (necrosis of the sclera may occur) </li></ul><ul><li>Refer urgently the rheumatoid arthritis patient with a painful eye even if it is not particularly red! </li></ul>
  23. 24. EYE PROBLEMS IN JOINT DISORDERS <ul><li>ANKYLOSING SPONDYLITIS </li></ul><ul><li>Occurs in younger patients with HLA B27 positivity, causes sacroiliitis </li></ul><ul><li>Patients have recurrent anterior uveitis </li></ul><ul><li>REITER’S SYNDROME </li></ul><ul><li>Ocular inflammation with oligoarticular arthritis and urethritis </li></ul><ul><li>Chlamydia, Yersinia, Salmonella may be the causative agent </li></ul>
  24. 25. SJÖGREN’S SYNDROME <ul><li>Typically affects conjunctiva and oral mucosa </li></ul><ul><li>The ophthalmologist is frequently the first doctor to see the patient </li></ul><ul><li>DRY EYE! </li></ul>
  25. 26. JUVENILE IDIOPATHIC ARTHRITIS <ul><li>Low grade iritis, that may lead to blindness, if not recognized and treated </li></ul><ul><li>Children with inflammatory arthritis under 12 years of age are at risk </li></ul><ul><li>Screening! </li></ul><ul><li>COMPLICATIONS: </li></ul><ul><li>Cataract </li></ul><ul><li>Glaucoma </li></ul><ul><li>Band keratopathy </li></ul><ul><li>Phthisis bulbi </li></ul>
  26. 27. EYE PROBLEMS IN SKIN DISORDERS <ul><li>ALLERGIC REACTIONS </li></ul><ul><li>Acute allergic reaction in atopic patients </li></ul><ul><li>Cell-mediated allergy (e.g. topical treatment) </li></ul><ul><li>SEBORRHOEIC DERMATITIS </li></ul><ul><li>Blepharitis </li></ul>
  27. 28. EYE PROBLEMS IN SKIN DISORDERS <ul><li>ROSACEA </li></ul><ul><li>BLEPHARITIS </li></ul><ul><ul><li>Severe corneal changes </li></ul></ul><ul><li>PSORIASIS </li></ul><ul><ul><li>Iritis in some patients </li></ul></ul>
  28. 29. BLISTERING DISORDERS <ul><li>STEVENS-JOHNSON SYNDROME </li></ul><ul><li>PEMPHIGOID </li></ul><ul><li>EPIDERMOLYSIS BULLOSA </li></ul>
  29. 30. STEVENS-JOHNSON SYNDROME <ul><li>Acute hypersensitivity vesiculobullous reaction of the skin and mucous membranes </li></ul><ul><li>Immune complex deposition incited </li></ul><ul><li>by medications or infectious agents </li></ul><ul><li>Corneal ulceration and severe pseudomembranous conjunctivitis </li></ul><ul><li>Symblepharon, entropion, </li></ul><ul><li>ectropion, trichiasis, dry eye, persistent conjunctival </li></ul><ul><li>inflammation, corneal opacification </li></ul>
  30. 31. OCULAR CICATRICIAL PEMPHIGOID <ul><li>Slowly progressive, chronic cicatrizing conjunctivitis </li></ul><ul><li>Idiopathic, possibly a type II hypersensitivity reaction </li></ul><ul><li>Presents in women over 60 with recurrent attacks of nonspecific conjunctival inflammation </li></ul><ul><li>There may be associated oral, pharyngeal or urethral mucosal lesions </li></ul>
  31. 32. INFECTIONS OF THE SKIN INVOLVING THE EYE <ul><li>HERPES ZOSTER </li></ul><ul><ul><li>Often involves the eyelid </li></ul></ul><ul><ul><li>Cornea and uvea may be involved (secondary glaucoma) </li></ul></ul><ul><li>VARICELLA </li></ul><ul><ul><li>Lid and corneal lesions </li></ul></ul><ul><li>IMPETIGO </li></ul><ul><li>WARTS </li></ul><ul><li>MOLLUSCUM CONTAGIOSUM </li></ul><ul><li>PUBIC LICE </li></ul>
  32. 33. HERPES ZOSTER (HZ) <ul><li>Incidence: between 40 and 70 years </li></ul><ul><li>Healthy and immuno-compromized patients are affected </li></ul><ul><li>HZ ophthalmicus represents 10 - 15% of cases </li></ul>
  33. 34. HERPES ZOSTER <ul><li>Any branch of the Vth cranial nerve may be affected </li></ul><ul><li>Ocular complications are related to infection of the naso-ciliary nerve </li></ul><ul><li>Eyelid cicatrization </li></ul><ul><li>Symblepharon </li></ul><ul><li>Keratitis </li></ul><ul><li>ANTERIOR UVEITIS WITH SECONDARY GLAUCOMA! </li></ul>
  34. 35. AIDS <ul><li>TWENTY MILLION CASES WORLDWIDE IN 2000! </li></ul><ul><li>Retrovirus (HIV) which infects immunocompetent CD4+ cells </li></ul><ul><li>RESULTS IN CELLULAR IMMUNODEFICIENCY (T-CELL AND MACROPHAGE DEFICIT) </li></ul><ul><li>Complications due </li></ul><ul><li>1) to the virus itself </li></ul><ul><li>2) to superinfection by opportunistic pathogens </li></ul>
  35. 36. OCULAR INVOLVEMENT IN AIDS <ul><li>Ocular manifestations have been reported in up to 70% of individuals infected with HIV </li></ul><ul><li>Ocular manifestations almost invariably reflect systemic disease and may be the first sign of disseminated systemic infection </li></ul><ul><li>The most common ocular finding is HIV retinopathy, occurring in about 50%-70% of cases </li></ul><ul><li>HIV has been isolated from human retina, and its antigen has been detected in retinal endothelial cells </li></ul><ul><li>Endothelial infection may be responsible for the vascular alterations </li></ul>
  36. 37. INFECTIOUS AGENTS THAT AFFECT THE EYE IN AIDS <ul><li>Cytomegalovirus (CMV) - retinitis </li></ul><ul><li>Herpes Zoster - retinal necrosis </li></ul><ul><li>Toxoplasma gondii - retinochoroiditis </li></ul><ul><li>Mycobacterium tuberculosis - multifocal choroiditis </li></ul><ul><li>Cryptococcus neoformans - multifocal choroiditis </li></ul><ul><li>Pneumocystis carinii- choroiditis </li></ul><ul><li>These agents can infect the ocular adnexa, anterior or posterior segment </li></ul><ul><li>Multifocal choroiditis is an alarming sign, since it frequently represents disseminated infection! </li></ul>
  37. 38. OCULAR MANIFESTATIONS OF AIDS <ul><li>Clinically 75% of patients have ocular signs or symptoms </li></ul><ul><li>ANTERIOR SEGMENT COMPLICATIONS </li></ul><ul><li>Conjunctival teleangiectasia, giant molluscum, </li></ul><ul><li>High grade malignant lymphoma/Burkitt lymphoma </li></ul><ul><li>Kaposi sarcoma </li></ul><ul><li>Keratitis, keratoconjunctivitis (HZ) </li></ul>
  38. 39. OCULAR MANIFESTATIONS OF AIDS <ul><li>POSTERIOR SEGMENT COMPLICATIONS </li></ul><ul><li>Vasculitis (direct effect of the virus) </li></ul><ul><li>VIRUS INFECTIONS (MULTIPLE) </li></ul><ul><li>CMV retinitis </li></ul><ul><li>HSV acute retinal necrosis </li></ul><ul><li>MYCOTIC AND PARASITIC INFECTIONS </li></ul><ul><li>Pneumocystis carinii </li></ul>
  39. 40. EYE PROBLEMS IN VASCULAR DISORDERS <ul><li>Hypertension </li></ul><ul><li>Diabetes mellitus </li></ul><ul><li>Hyperlipidaemia </li></ul><ul><li>Hematological disorders </li></ul><ul><li>Vasculitis </li></ul><ul><li>Ischaemic optic nerve disease </li></ul><ul><li>Retinal vascular occlusions </li></ul>
  40. 41. RETINAL FEATURES OF HYPERTENSION <ul><li>Vessels (especially arterioles) </li></ul><ul><ul><li>Narrowing </li></ul></ul><ul><ul><li>Thickening with silvering or tortuosity </li></ul></ul><ul><li>Arteriovenous crossing change (nipping in of the vein) </li></ul>
  41. 42. RETINAL FEATURES OF HYPERTENSION <ul><li>Hemorrhages </li></ul><ul><li>Cotton wool spots (microinfarcts) </li></ul><ul><li>Retinal edema and disc swelling </li></ul><ul><li>Hard exudates (lipid) </li></ul><ul><li>Macroaneurysms </li></ul>
  42. 43. DIABETIC RETINOPATHY <ul><li>A sight-threatening chronic process based primarily </li></ul><ul><li>on damage to the retinal capillaries (microangiopathy) </li></ul><ul><li>Later the process involves larger vessels: venules, </li></ul><ul><li>arterioles and arteries </li></ul><ul><li>A certain degree of retinopathy develops in virtually </li></ul><ul><li>every diabetic patient </li></ul>
  43. 44. DIABETIC RETINOPATHY <ul><li>In type -1 (insulin-dependent) diabetes the first ophthalmologic examination should be performed 3 to 5 years after the diagnosis </li></ul><ul><li>In type -2 diabetes (NIDDM) the beginning of the disease is usually not known, ophthalmologic examination is mandatory, as retinopathy or macular edema may already be present at diagnosis! </li></ul>
  44. 45. DIABETIC RETINOPATHY (pathogenic mechanisms) <ul><li>Capillary hypertension </li></ul><ul><li>Systemic hypertension </li></ul><ul><li>Insulin resistance </li></ul><ul><li>Increased vascular permeability </li></ul><ul><li>Endothelial dysfunction </li></ul><ul><li>Hyperglycemic pseudohypoxia </li></ul><ul><li>Non-enzymatic glycosylation </li></ul>
  45. 46. Capillary damage Pericyte necrosis (capillaries and veins) Endothelial damage Capillary non-perfusion Retinal ischaemia Vasoactive factors Hyperperfusion Abnormal autoregulation Hypertension New vessels Growth factors Hyperglycemia
  46. 47. NON-PROLIFERATIVE DIABETIC RETINOPATHY <ul><li>MICROANEURYSMS and blot-and-dot hemorrhages </li></ul><ul><li>INCREASED VASCULAR PERMEABILITY (hard exudates) </li></ul><ul><li>ISCHAEMIA (cotton-wool spots: damage to axoplasmic flow in the nerve fiber layer) </li></ul>
  47. 48. NON-PROLIFERATIVE DIABETIC RETINOPATHY <ul><li>Venous “beading” </li></ul><ul><li>IRMA (intraretinal microvascular anomalies) </li></ul><ul><li>Extensive capillary occlusion and ischaemia </li></ul>
  48. 49. PROLIFERATIVE DIABETIC RETINOPATHY <ul><li>IS CHARACTERIZED BY NEWLY FORMED VESSELS (neovascularisation) which originate from vessels of the optic nerve or from the surface of the retina </li></ul><ul><li>Newly formed vessels are abnormal, extremely fragile vessels! </li></ul>
  49. 50. PROLIFERATIVE DIABETIC RETINOPATHY <ul><ul><li>Vascular buds grow into the vitreous cortex through the damaged internal limiting membrane of the retina </li></ul></ul><ul><ul><li>Shrinkage and retraction of the vitreous is complicated by vitreous hemorrhage and/or retinal detachment </li></ul></ul>
  50. 51. ANTERIOR SEGMENT COMPLICATIONS OF DIABETES <ul><li>Recurrent, non-healing corneal epithelial defects </li></ul><ul><li>Neovascular glaucoma (related to rubeosis iridis ang anterior chamber angle neovascularization) </li></ul>
  51. 52. HYPERLIPIDAEMIA <ul><li>OCULAR SYMPTOMS </li></ul><ul><li>Corneal arc </li></ul><ul><li>Eruptive xanthoma </li></ul>
  52. 53. VASCULITIS <ul><li>PERIARTERITIS NODOSA </li></ul><ul><li>WEGENER GRANULOMATOSIS </li></ul>
  53. 54. VASCULITIS <ul><li>ARTERITIS TEMPORALIS (GIANT CELL ARTERITIS) </li></ul><ul><li>Arteritic ischemic optic neuropathy </li></ul><ul><li>Painless visual loss with altitudinal visual field defect </li></ul><ul><li>Age more than 55 years! </li></ul><ul><li>Elevated ESR! </li></ul>
  54. 55. PHAKOMATOSES <ul><li>Phakomatoses or neurocutaneous syndromes are a group of disorders featuring multiple discrete lesions of one or a few histologic types that are found in two or more organ systems, including skin or central nervous system or both. </li></ul><ul><li>Eye involvement is frequent, and may constitute an important source of morbidity or provide information critical to diagnosis </li></ul><ul><li>Neurofibromatosis (von Recklinghausen disease) </li></ul><ul><li>Tuberous sclerosis (Bourneville disease) </li></ul><ul><li>Angiomatosis of retina and cerebellum (von Hippel-Lindau) </li></ul><ul><li>Encephalotrigeminal angiomatosis (Sturge-Weber syndrome) </li></ul>
  55. 56. NEUROFIBROMATOSIS <ul><li>Two genetically distinct form are recognized </li></ul><ul><li>NF-1, one of the commonest autosomal dominant disorders. Variation in the spectrum and severity of expression are prominent features. </li></ul><ul><li>NF-1 gene is a tumor suppressor gene (chromosome 17q12) </li></ul><ul><li>Diagnostic features </li></ul><ul><ul><li>Café au lait spots </li></ul></ul><ul><ul><li>Skin neurofibromas </li></ul></ul><ul><ul><li>Lisch nodules </li></ul></ul>
  56. 57. NEUROFIBROMATOSIS 1 (NF-1) <ul><li>Associated ocular features </li></ul><ul><ul><li>Neurofibroma of eyelid and orbit </li></ul></ul><ul><ul><li>Uveal melanocytic nevi </li></ul></ul><ul><ul><li>Retinal glial hamartoma </li></ul></ul><ul><ul><li>Congenital glaucoma </li></ul></ul><ul><ul><li>Optic nerve glioma </li></ul></ul>
  57. 58. NEUROFIBROMATOSIS 2 (NF-2) <ul><li>The gene maps to chromosome 22 </li></ul><ul><li>Diagnostic features </li></ul><ul><ul><li>Schwannoma of VIII cranial nerve </li></ul></ul><ul><ul><li>Meningioma </li></ul></ul><ul><ul><li>Spinal nerve root tumors </li></ul></ul><ul><ul><li>Cutaneous neurofibroma (relatively rare) </li></ul></ul><ul><li>Associated ocular features </li></ul><ul><ul><li>Lens opacities - posterior capsular cataract developing during adolescence or young adulthood </li></ul></ul>
  58. 59. TUBEROUS SCLEROSIS <ul><li>Autosomal dominant trait, the responsible gene maps to chromosome 9q34 </li></ul><ul><li>Skin lesions </li></ul><ul><li>Angiofibroma (adenoma sebaceum) </li></ul><ul><li>Seizures </li></ul><ul><li>Mental retardation in 50% of cases </li></ul><ul><li>Eye lesions </li></ul><ul><li>Astrocytic hamartoma (composed of nerve fibers and glial cells) may be flat or mulberry-like </li></ul>
  59. 60. VON HIPPEL-LINDAU DISEASE Autosomal dominant disease, maps to chromosome 3p25 <ul><li>Diagnostic features </li></ul><ul><li>Retinal angioma supplied by dilated tortuous arteriole and venule, may be multiple </li></ul><ul><li>Cerebellar angioma </li></ul><ul><li>Associated ocular conditions </li></ul><ul><li>Retinal exudates, hemorrhage, retinal detachment </li></ul><ul><li>Associated general conditions </li></ul><ul><li>Kidney tumors (renal carcinoma) </li></ul><ul><li>Pheochromocytoma </li></ul><ul><li>Cysts in different organs </li></ul>
  60. 61. STURGE-WEBER SYNDROME <ul><li>Is not genetically transmitted </li></ul><ul><li>Diagnostic features </li></ul><ul><li>Facial cutaneous angioma (consists of excessively numerous dilated capillaries in the dermis) </li></ul><ul><li>Cerebral calcification </li></ul><ul><li>Seizures </li></ul>
  61. 62. STURGE-WEBER SYNDROME <ul><li>OCULAR FEATURES </li></ul><ul><li>Choroidal involvement - increased number of choroidal vessels </li></ul><ul><li>Glaucoma is the most serious complication seen in children with SWS </li></ul>