1. how does microphthalmos with cyst present
    blue mass of lower lid
  2. how do you differentiate strawbery nevus of capillary hemangioma vs port wine stain
    strawberry nevus blanches
  3. what is predilection of capillar hemangioma
    "medial upper eyelid, and superior nasal quadrant of the orbit"
  4. what is kassabach-merritt syndrome
    "capillary hemangioma WITH coagulopathy -> thrombocytopenia, cardiac failure, acute hemorrhage, mortailty 30%"
  5. what is a varix
    "dilataion of preexistting venosu channels, needs surgical removal if proptosis, ON compression, pain"
  6. what is fibrous dysplasia
    "tumor of fibrous connective tissue, cartilage, and bone, can involve 1 or multiple bones (sphenoid, ehtoid)"
  7. what is albright's syndrome
    "fibrous dysplasia involving multiple bones (polyostotic), short stature, premature closure of epiphysis, precocious puberty, and hyperpigmented macules, hearing loss"
  8. what is grade I astrocytoma (pilocytic astrocytoma of the juvenile type)
    "ON glioma -> slow growing hamartoma dervied from interstitial cells, astroglia, oligodendroglia, associated with NF"
  9. "what is ""RR track"" on CT scan pathognomonic for"
    optic nerve glioma
  10. "what is avg age of dx of rhabdo, what area of orbit does it usually involve"
    "8yo, superonasal"
  11. what is the most common form of rhabdo? Last common? Poorest prognosis? Subtype of embryonal?
    "embryonal, pleomorphic, alveolar, botryoid"
  12. what is mortailty rate of rhabdo
    "with chemo and XRT 3 year survival is 90%; with localzied tumor, 100% cute rate, with invasion, 60% cure rate"
  13. what is the most frequent metastatic orbital tumor of childhood
    neuroblastoma (40%)- accounts for 15% of all childhood deaths
  14. where does neuroblastoma originate
    "adrenal gland, sympathetic ganlgion chain, mediastinum or neck"
  15. how can neuroblastoma present
    "sudden proptosis and periorbital ecchymosis (raccoon eyes), ipsilateral horners, and opsoclonus "
  16. what are neuronal markers of neurboalstoma
    synaptophysin and neuron-specific enolase
  17. mets to what organ is considered very poor prongosis for neuroblastoma
  18. what is ewings sarcoma
    "2nd most frequent mets tumor to orbit, primary intermedullary malignancy of lone bones of extremities or axial skeleton -> frequently mets to bone and lungs -> presents with acute proptosis, hemorrhage, and inflammation from tumor necrosis"
  19. "what is granulocytic sarcoma (""chloroma"")"
    myelogenous leukemia which spreads to eye -> proptosis with infiltrate of inolved tissues by leukemic cells
  20. how does histiocytosis X most frequently present
    lytic defect of orbital roof causing progressive proptosis
  21. what is patholoyg of histiocytosis X
    "granulomatous histiocytic infiltrate, birbeck granules (dense, central core and thick outer shell), stains positive for s-100 and vimentin"
  22. what are the 3 histiocytosis X and what is best prognosis? Worse prognosis?
    "eosinophilic granuloma (best), hand-schuller-crhistian disease , letterer-siwe (worst)"
  23. what is traid of hand-schull-erchristian
    "proptosis, lytic skull defects, diabetes insipidus"
  24. what is eosniohpilic granuloma
    solitary bone lesion most likely involving superior termporal bone orbit
  25. what is burkitt's lymphoma
    "primarily afffects maxilla in black children with secondary invasion of the orbit -> related to EBV -> malignant B cells, ""starry sky "" appearance "
  26. what is treacher-collions
    "hyppoplasia of midface -> dental and ear abnormalities, small ears/jaw"
  27. what is goldenhar's syndrome
    "abnormality of the 1st and 2nd brachial arches -> limbal dermoids and dermolipomas, hypoploastic facial bones, ear appendages, vertebral abnormalities, lower lid colobomas, associated with duane syndrome"
  28. what is hypertelorism
    increased interpupillary distance due to increased distance between medial orbital walls
  29. what is craniosynostoses
    "premature closure of bony sutures inhibiting growth of the cranium PERPENDICULAR to the axis of the suture -> hypertelorism, proptosis"
  30. what is plagiocephaly
    "premature closure of 1/2 of the coronal sutures, skull develops normally on one side and is under developed on the other side"
  31. what is crouzon's syndrome
    "AD or sporadic, absence of forward development of the cranium and midface, mental retardation, parrots beak nose, auditory canal atresia"
  32. what is waardenburgs syndrome
    "AD, lateral displacement of inner canthi/puncta, confluent eyebrows, heterchromia iridis, fundus hypopigmentation, deafness, white forelock"
  33. what is pierre robin sequence
    "micrognathia, glossoptosis, cleft palate, assocaited with stickelrs -> RD, congenital glaucoma, cataracts, high myopia"
  34. what are eye findings of FAS
    "short palpebral fissures, telecanthus, epicanthal folds, strabismus, optic disc anomalies, high myopia, mental retardation, small birth weight, cardiovascular and skeletal abnormalities"
  35. what is ankyloblepharon
    "partial or complete fusion of lid margins, usually temporal, AD, assocaited with craniofacial abnromalities but can also be secondary to cheimcal burns, infalmmation, SJS, OCP"
  36. what is coloboma of lower lateral third of eyelid assocaited with?
    "treacher-collions, goldenhars syndroem"
  37. what are possible etiologies of myogenic congenital ptosis
    "dysgnesis of levator muscle, fibroadipose tissue at muscle belly"
  38. what is eurblepharon
    "hirozontal widening of palpebral fissure due to inferior insertion of lateral canthal tendon, associated with ectrooin of lateral third of lid"
  39. what is telecanthus
    "widened intercanthal distance due to long medial canthal tendons; assocaited with FAS, warrdenburgs, blepharophimosis syndormes"
  40. in what race does nevus of ota have malignant potential
  41. what is ophthalmia neonatorum
    "conjunctivitis wtihin first month of life (usually paillary, sinc eno follicular reaction in newborns)"
  42. what opthalmia neanatorum presents in 1-2 days? 4-5 days? 5-14 days?
    "neiseeria gonorrhea; other bacterial (staph, strep, h.flu, enterococci); HSV + chlamydia (most common)"
  43. what are eye findings of kawasakis disease
    "b/l conjunctivitis, mild NGAU"
  44. what do complex choriostomas contain
    "cartilage, ectopic lacrimal gland tissue, smooth muscle, sweat glands, sebaceous glands, hair"
  45. what is atnerior megalophthalmos assocaited with
    "marfans, mucolipidosis type II, apert's syndrome"
  46. what chromosome is cornea plana mapped
  47. what is posterior KC
    discrete posterior corneal indentation with stromal haze and thinning
  48. what is axenfels' anomaly
    "posterior embrytoxon, 50% develop galucoma, AD"
  49. what is alagilles syndrome
    "AXENFELD + pigmentaroy retinopathy, systemic abnormalities "
  50. what is reigers anomaly
    "axenfelds + iris hypoplasia with holes, 50% develop glaucoma"
  51. what is reigers' syndrome
    "riegers anomaly + mental retardation and systemic abnormalities (dental, craniofacial, GU, skeletal)"
  52. what is peter's anomaly
    "central cornea leukmoa (due to defect in descemets, no endothlium) with iris adhesions, cataracts, 50% get glaucoma, cardiac/craniofacial/skeletal abnormalities"
  53. what genes is axenfld associated with? Peters
    "RIEG1, RIEG2, fOXC1, pax6; peters is assocaited with pax6, chromosome 11"
  54. what is CHED
    chromsome 20p -> central clouding due to edema from defect of corneal endothlium and descemet's membrane
  55. what is difference between aD and AR CHED
    "(AD form later onset with no nystagmus, progressive, pain; AR form more common, presents at birth, nystagmus, no pain, non progressive)"
  56. what is CHSD
    "AD -> flaky feathery apperance of anterior stroma, clear peripherally, no corneal edema -> may cause strabismus, nystagmus, ambylopia -> nonprogressive"
  57. what is riley day syndrome
    "AR -> autonomic nervous system dysfunction due to block of NE production in Jews -> decreased K sensation -> crisis can last 1-10 days with profuse sweating, postural hypotension -> increased risk with general anesthesia -> dx with highurinary HVA and VMA, low HMPT"
  58. what is hutchinsons' triad
    "IK from syphillis, hutchinson's teeth, deafness"
  59. what are the 3 types of aniridia
    "AN1 (AD, only eye involement), AN2 (sporadic, wilms tumor - Miller syndrome and WAGR - wilms tumor, aniridia, GU abnromalities, retardation), AN3 (AR, mental retardation and ataxia- Gillespie's syndrome)"
  60. where is iris colobma usually located
  61. what is ectropion uveau associated with
    "neurofibromatosis, prader-willi syndrome"
  62. what is congenital iris hypoplasia associated with
  63. what is brushfield's spots
    focal areas of iris stromal hyperplasia surrounded by relative hypoplasia -> 85% of downs sydnrome
  64. what is juvenile xanthogranuloma
    "histiocytic porliferatio of skin with yellow-oragne nodules (high lipid, vascular) -> spontatneous hyphema if involves iris -> regress at 5yo -> touton giant cells "
  65. what is medulloepithelioma
    primary neoplasm of CB neuroectoderm -> flexner-wintersteiner and homer-wright roseets
  66. what is lenticonus
    "cone-shaped lens deformity due to central bulge in area of thin capsule, associated with alport syndrome"
  67. what is microphakia associarted with
    lowe syndrome
  68. what is microspherophakia associated with
    "weill-marchesani syndrome, hyperlysinemia, lowe's syndrome, alports syndrome, congenital rubella, peters anomaly"
  69. what is the cause of bilateral congenital cataracts
    "usually AD, consider DM, galactosemia, Lowe's syndrome, TORCH infections-> metabolic workup and tx by age 3 months (wilr esult in irreversible nystagmus if not treated)"
  70. what is association of unilateral cataract and when do you treat
    "phpv, anterior polar, por posterior lenticonus -> tx by 6-8 weeks"
  71. what type of catarract is found in galactosemia
    oil droplet cataract
  72. what is lowe's syndrome
    "x-linked defect of AA metabolism -> congenital cataract in 100%, microphakia, retianed lens nuclei, glaucoma -> renal tubular acidosis, aminoaciduria, renal rickets, MR, "
  73. what is alports syndrome
    "x-linked traid of anterior lenticonus, deafness, and hemorrhagic nephropathy -> diagnosis by lack of alpha-5 type IV collagen in basement membranes)"
  74. what are the few syndromes with combined cataract and glaucoma
    "lowe syndrome, hallermann-streiff syndrome (birdlike facies), rubella"
  75. what is down syndrome cataract
    snow flake cataract
  76. what percent of congenital cataract surgery result in crhonic aphakic glaucoma
    "15%, develops 5-6 years after sx"
  77. "what is the difference between congenital glaucoma, infantile glaucoma, juvenile glaucoma?"
    "congenital (<3 months old), infantile (3 motnhs-3 years), juvenile (3 years-35 yrs)"
  78. what genes is responsbile for primary congenital glaucoma
  79. what anesthetics raise IOP
    "keatmine, succinylcholine; halothane, thiopental, tranquilizers and barbituates lower IOP"
  80. how does goniotomy work
    "perform in child < 1.5 yo, TM incised under direct gonioscopic visualization, requires clear cornea, 77% success rate"
  81. how does trabeculotomy work
    "perform in child > 1.5 yo, goniotomy fails twice, K hazy -> schlemms canal is entered via an external incision and the trabeculotome rotates into the AC and tears the TM, 77% success rate"
  82. what do you do if goniotomy and trabeculotomy fail
    "trab with mmc, drainage implant, cycloablation of CB"
  83. what is zone I of ROP
    60 degree diameter of ON
  84. what is stages of rop
    1 (demarcation line) 2 (ridge) 3 (eridge with extraretinal blood vessels) 4. (subtotal rd; A is extrafoveal B is including fovea) 5. total funnel RD
  85. what is plius disease
    "engorged, turtous vessels around disc, vitreous haze, iris vascular congestion"
  86. what is threshold disease
    level at which 50% go blind wotuht treatment= stage 3 in zone 1 or 2 with plus diase and at least 5 contiguous or 8 cumulative clock hours of involvement
  87. what is rush disease
    plus disease in zone 1 or posterior zone 2 - very rapdily progressive
  88. what is prethreshold
    "examine the eye qweek -> 1. zone 1, any stage 2. zone 2, stage 2+ or 3 3. zone 2, stage 3+ for > 5 clock hours"
  89. what is conclusion of CRYO-ROP study
    cryo preserves VA in eyes with threshold disease
  90. when is the intial eam for ROP
    "4-6 weeks after birth or 30 weeks gestation (whichever is later), then q2weeks until vessels reach zone 3"
  91. what is FEVR
    "similar to ROP, macular dragging with vascaulr peripheral retina, fibrovascular proliferation, dragging of disc and macula, RD"
  92. what is norries disease
    "xlinked recessive -> defect of retinal detachment -> b/l leukocoria, retinal dysplasia, peripheral NV, hemorrhagic RD, retinal necrosis -> deafness, mental retardation"
  93. what is fundus flavimalatus
    "AR, ABCA4 gene -> b/l yellow white flecks at RPE predomintly involving peripheral retina"
  94. what is stargardts
    "most common hereditary macular dystrophy -> macular degeneration with flecks, foveal atrophy, bulls eye maculopathy, salt and pepper pigmentary retina -> dark choroid due to accumulation fo liposfuscin"
  95. what is bests
    "VMD2 gene -> macular dystrophy in which RPE is primarily affected, form of exudative central macular detachment in which pigmentation can occur in end stages with atrophic scarring and or cnv"
  96. what is arden ratio
    abnormal EOG < 1.5 in best disease
  97. what is pattern dystorphy
    "central pigmentary disturbance, good central vision, normal ERG and abnormal EOG > may develop CNV -> 3 types: sjogrens reticular, butterfly, adult vitelliform"
  98. what is RP
    "group of progressive dystrophies caused by abnormal photoreceptor protein production -> bone spicules, salt and pepper changes, bronze shee in macula, decreased scotopic amplitude and delayed b-wave"
  99. what is lebers' congenital amaurosis
    "infantile form of RP, oculodigital sign (child rubs eyes to elicit entopic stimulation), diffuse absence of photoreceptors, ERG is low or flat"
  100. what is retinitis punctata albescens
    "small white spots in midperipehry of retina, no bone spicules (variant of RP)"
  101. what is Usher's syndrome
    "most common syndrome associated with RP, USH2A -> RP and deafness, ataxia, MR, rickets, muscle wasting"
  102. what is refsums disease
    "RP syndrome where deficiency of phytanic acid oxidases causes phytanic acid to accumulate in RPE cells, PNYH gene, atpyical RP with no pigment or starts in macula, cataracts, prominent corneal nerves, ataxia, deafness, asnosmia, cardiac problems, hypotonia, hepatomegaly, MR -> increased serum copper and ceruloplasmin"
  103. what is lawrence-moon-biedhl-bardet syndrome
    "RP syndrome with pigmentary reitnopathy with flat ERG, MR, hypogonadism, short stature (polydactyl and obesity in biedhl-bardet and spastic paraplegia in lawrence moon)"
  104. what is biettis crystalline retinopathy
    "AR, decreased va in 5th decade -> yellow-white refractile spots throughout fundus, geographic atrophy, may have crystals in peripehral corneal stroma"
  105. what is CSNB
    "group of nonprogressive rod disorders classified by fundus appearance -> normal vision, VF, and color vision, may show paradoxical pupillary dilatrion to light, no purkinje shift"
  106. what is fundus albipunctatus
    type of CSNB with midperipheral deep yellow-white spots sparing the macula (alports syndrome has retinal apearance similar to this)
  107. what is ogushi's disease
    "mizuo-nakaruma phenomenon (golden brown fundus in light state, normal colored fundus in dark state)"
  108. what is choroidemia
    "progressive disorder of choriocapillaris, considered a form of rod-cone degeneration -> defect in choroidal vasculature"
  109. what is gyrate atrpohiy
    "defect of ornithine aminotrasnferase with eleated ornithine levels, low lysine levles -> restrict arginine and protein in diet, B6 supplementation (pyridoxine reduces ornithine)"
  110. what are mucopolysacharidoses
    "AR except for hunters -> accumulation fo acid mucopolysaccharides due to lysosomal enzyme defects, heparin sulfate accumulates are associated with pigmentary retinopathy (sly has no corneal clouding or retinopathy) while hurlers and schei has both corneal clouding and retinopathy)"
  111. where is the defect in juvenile retinoschisis
    "cleave at NFL and fovea, inferotemporal peripehry, XLRS1 gene"
  112. where is defect in senile retinoschisis
    outer plexiform layer
  113. what is goldmann-favre disease
    "rare vitreotapetoretinal degeneration with nyctalopia and constricted visual fields -> optically empty vitreous, retinoschisis, bone spicule RPE changes, cataracts"
  114. what is wagner syndrome
    "vitreous liquefaction and optically empty vitreous, no RD, lattice-like changes, cataract, moderate myopia, optic atrophy"
  115. what is difference between tyrosinase negative and positive albinism oculocutnaoues albisnism
    "tyrosinase negative has no pigemtnation, defect in chromsome 11; tyrosinase positive has some pigmentatio, defect in chromsome 15, associated with prader-willi and angelmans syndrome)"
  116. "what is protanomaly, deuteranomaly, tritanomaly"
    "anbnormaly level of red pigment, green pigment, blue pigment"
  117. how does leukemia affect the eye
    "uniltaeral retinal hemorrhages, cellular infiltration of vitreous, retina, optic nerve, roth spots, CWS, htereochormia irides, pseudohypopyon, spontaenous hyphema, uveitic glaucoma"
  118. what are ocular findings of sturge weber syndrome
    "port wine stain, tomato ketchup fundus, peripheral retinal AV malformations, iris angiomas, congenital glaucoma"
  119. what is tuberous sclerosis
    "triad of adenoma sebaceum, mental retardation, epilepsy -> astrocytic hamartoma of the reitna and optic nerve -> ash leaf spots, caf au lait spots"
  120. what is wyburn mason syndrome
    "racemose hemangioma of retina, also av malformations in brain, orbit and facial bones"
  121. what is retinal cavernous hemangioma
    "cluster of intraretinal aneurysms filled with venous blood -> cluster of grapes, vit heme is rare"
  122. what are eye findings of NF1
    "disorder of schwanna cels and melanocytes with hamartomas of CNS, skin and eye -> plexiform neurofibroma, prominent cornreal nerves, lisch nodules, ectroion uveae, retinal astrocytic hamartoma, ON glioma, meningioma, schwannoma, absence of sphenoid wing"
  123. what are ocular findings of VHL (angiomatosis retinae)
    "hamartomas (retinal capillary hemangiomas, retinal angiomas)of eye, brain, kidney, adrenal gland"
  124. what is incontinentia pigmenti (bloch-sluzberger syndrome)
    "only in females -> proliferative retinal vasculopathy (resembles ROP), RD, retrolental membrane -> microcephaly, hydrocephalus, seizures, mental deficiency"
  125. what is morning glory disc
    "represents dysplastic coloboma, seen in high myopia, may be associated with cranial defects or other ocular abnromalities"
  126. what are the hereditary optic neuropathys
    "Kjer's syndrome, behr's syndrome, wolfram syndrome, LHON"
  127. what is LHON
    "maternal mitochondrial DNA point mutations in mitochodrial gene for NADH -> disc hyperemia, peripapillary telangiectatic vessels, NFL edema, late disc pallor, cardiac conduction defects"
  128. what is lockwood's ligament
    "fusion of sheats of inferior rectus and inferior oblique, attaches to medial and lateral retinaculi and supports globe"
  129. what is monofixation syndrome
    "binocular sensory state in patients with small angle strabismus < 8 PD (microtroipa) -> central scotoma and peripheral fusion presen tiwth binocular viewing, usually ET, mild amyblopia, stereo reduced, typically occurs when preexisting strabismus is controlled nonoperatively or after surgery, but may occur in nonstrabismic patients from macular lesions and anisometropia"
  130. how do you diagnose monofixation syndrome
    "4 PD base out test: normal person- eyes turn and then refixate; in monofixation, prism is placed in front of normal eye, there is no refixation movement, and when prism is placed in front of eye with scotoma, there is no initial eye turn"
  131. what is arc
    corresopnding areas of the retina that have dissimlar relationships to their respective foveas; sensory adaptation eliminates peripheral diplpolia and confusion by permitting fusion of similar images onto noncorresponding retinal areas
  132. how do you diagnose ARC
    bagolini lenses (glases have no dioptri cpower but have narrow striatiosn runing at 45 and 135 degrees)
  133. what is primary deviation
    deviatoni measured when normal eye fixing
  134. what is secondary deviation
    deviation measured when paretic eye fixing (larger than primary deviation)
  135. what is the angle kappa
    displacement in degrees of the pupillary axis form the optic axis
  136. what is positive angle kappa
    fovea is temporal to pupillary axis
  137. what is exxcentric fixation
    consistent use of a nonfoveal region fo retina for monocular viewing in an amylopic eye
  138. what is latent nystagmus
    "cover 1 eye, nystagmus converts to jerk away from covered eye"
  139. how does slow wave velocity differe between congenital and latent nystagmus
    "increases in congenital, decreases in latent"
  140. what is latent nystagmus associated with
    "congenital esotroipa, DVD"
  141. what is alexander's rule
    "in latent nystagmus, intensity increases when looking toward fast phase and decreases whenlooking toward slow phase (fast gets faster, slow gets slower)"
  142. what is sensory nystagmus
    pendular nystagmus due to visual loss
  143. what is spasmus nutans
    "eye movements (fine rapid eye movements), head nodding/bobbing, toritcollis -> need to r/o tumor with neuroimaging"
  144. what Is nystagmus blcokage syndrome
    overaccomodation to dampen nystagmus results in ET at near (usually large)
  145. what is quick way of estimating AC/A ratio (accomdative convergence/accomodation)
    near deviation - distance deviation; high ratio if > 10-15 pD difference
  146. how do you treat high AC/A ratio?
    "consider bifocals, miotics, surgery"
  147. what does normal AC/A ratio mean
    refractive accomodative ET in people with high hyperoipa (high AC/A ratio people have mild hyperopia) -> give the full cycloplegic refraction
  148. what is divergence insufficiency
    "ET greater at distance than near -> treat with base out prisms, can be associated with pontine tumors, head trauma, or other neurologic abnormalities, and can mimic b/l CN6 paralysis"
  149. what is convergence insufficiency
    "XT greater at near than at distance -> exacerbated by fatigu, drugs, uveitis, adie's tonic pupil, head truama, systemic illnesses"
  150. what is Bielschowksy's phenomenon
    "50% of patients with DVD, elevated eye will drift downward when light in fixing eye is reduced, while illumination in an eye with dvd will cause it to drift up"
  151. what is red phenomenon
    "place red lens over either eye while patient fixates on light source, red image is always seen below the white image (unlike with true HT, when red image is seen above the primary image if filter is placed on hyperdeviated eye)"
  152. what is mobius syndrome
    cn 6 and 7 palsy -> due to aplasia of involved brain stem nuclei
  153. what is posterior fixation suture
    "faden procedure, suture placed 11-18mm from insertion trhu belly of muscle and sclera to weaken muscle only in it sfield of action, decreases mechanical advantage of muscle acting on globe, often combined with recession"
  154. what is a tuck
    procedure used to strengthen superio roblique by shortening the tendon ( can produce browns syndrome)
  155. what is harada-ito procedure
    "anterior temporal displacement of anterior half of SO tendon, used to correct exclyclotorsion"
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