peds_friedman.txt

blue mass of lower lid

strawberry nevus blanches

"medial upper eyelid, and superior nasal quadrant of the orbit"

"capillary hemangioma WITH coagulopathy -> thrombocytopenia, cardiac failure, acute hemorrhage, mortailty 30%"

"dilataion of preexistting venosu channels, needs surgical removal if proptosis, ON compression, pain"

"tumor of fibrous connective tissue, cartilage, and bone, can involve 1 or multiple bones (sphenoid, ehtoid)"

"fibrous dysplasia involving multiple bones (polyostotic), short stature, premature closure of epiphysis, precocious puberty, and hyperpigmented macules, hearing loss"

"ON glioma -> slow growing hamartoma dervied from interstitial cells, astroglia, oligodendroglia, associated with NF"

optic nerve glioma

"8yo, superonasal"

"embryonal, pleomorphic, alveolar, botryoid"

"with chemo and XRT 3 year survival is 90%; with localzied tumor, 100% cute rate, with invasion, 60% cure rate"

neuroblastoma (40%)- accounts for 15% of all childhood deaths

"adrenal gland, sympathetic ganlgion chain, mediastinum or neck"

"sudden proptosis and periorbital ecchymosis (raccoon eyes), ipsilateral horners, and opsoclonus "

synaptophysin and neuron-specific enolase

bone

"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"

myelogenous leukemia which spreads to eye -> proptosis with infiltrate of inolved tissues by leukemic cells

lytic defect of orbital roof causing progressive proptosis

"granulomatous histiocytic infiltrate, birbeck granules (dense, central core and thick outer shell), stains positive for s-100 and vimentin"

"eosinophilic granuloma (best), hand-schuller-crhistian disease , letterer-siwe (worst)"

"proptosis, lytic skull defects, diabetes insipidus"

solitary bone lesion most likely involving superior termporal bone orbit

"primarily afffects maxilla in black children with secondary invasion of the orbit -> related to EBV -> malignant B cells, ""starry sky "" appearance "

"hyppoplasia of midface -> dental and ear abnormalities, small ears/jaw"

"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"

increased interpupillary distance due to increased distance between medial orbital walls

"premature closure of bony sutures inhibiting growth of the cranium PERPENDICULAR to the axis of the suture -> hypertelorism, proptosis"

"premature closure of 1/2 of the coronal sutures, skull develops normally on one side and is under developed on the other side"

"AD or sporadic, absence of forward development of the cranium and midface, mental retardation, parrots beak nose, auditory canal atresia"

"AD, lateral displacement of inner canthi/puncta, confluent eyebrows, heterchromia iridis, fundus hypopigmentation, deafness, white forelock"

"micrognathia, glossoptosis, cleft palate, assocaited with stickelrs -> RD, congenital glaucoma, cataracts, high myopia"

"short palpebral fissures, telecanthus, epicanthal folds, strabismus, optic disc anomalies, high myopia, mental retardation, small birth weight, cardiovascular and skeletal abnormalities"

"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"

"treacher-collions, goldenhars syndroem"

"dysgnesis of levator muscle, fibroadipose tissue at muscle belly"

"hirozontal widening of palpebral fissure due to inferior insertion of lateral canthal tendon, associated with ectrooin of lateral third of lid"

"widened intercanthal distance due to long medial canthal tendons; assocaited with FAS, warrdenburgs, blepharophimosis syndormes"

whites

"conjunctivitis wtihin first month of life (usually paillary, sinc eno follicular reaction in newborns)"

"neiseeria gonorrhea; other bacterial (staph, strep, h.flu, enterococci); HSV + chlamydia (most common)"

"b/l conjunctivitis, mild NGAU"

"cartilage, ectopic lacrimal gland tissue, smooth muscle, sweat glands, sebaceous glands, hair"

"marfans, mucolipidosis type II, apert's syndrome"

12q

discrete posterior corneal indentation with stromal haze and thinning

"posterior embrytoxon, 50% develop galucoma, AD"

"AXENFELD + pigmentaroy retinopathy, systemic abnormalities "

"axenfelds + iris hypoplasia with holes, 50% develop glaucoma"

"riegers anomaly + mental retardation and systemic abnormalities (dental, craniofacial, GU, skeletal)"

"central cornea leukmoa (due to defect in descemets, no endothlium) with iris adhesions, cataracts, 50% get glaucoma, cardiac/craniofacial/skeletal abnormalities"

"RIEG1, RIEG2, fOXC1, pax6; peters is assocaited with pax6, chromosome 11"

chromsome 20p -> central clouding due to edema from defect of corneal endothlium and descemet's membrane

"(AD form later onset with no nystagmus, progressive, pain; AR form more common, presents at birth, nystagmus, no pain, non progressive)"

"AD -> flaky feathery apperance of anterior stroma, clear peripherally, no corneal edema -> may cause strabismus, nystagmus, ambylopia -> nonprogressive"

"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"

"IK from syphillis, hutchinson's teeth, deafness"

"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)"

inferonasal

"neurofibromatosis, prader-willi syndrome"

albirnism

focal areas of iris stromal hyperplasia surrounded by relative hypoplasia -> 85% of downs sydnrome

"histiocytic porliferatio of skin with yellow-oragne nodules (high lipid, vascular) -> spontatneous hyphema if involves iris -> regress at 5yo -> touton giant cells "

primary neoplasm of CB neuroectoderm -> flexner-wintersteiner and homer-wright roseets

"cone-shaped lens deformity due to central bulge in area of thin capsule, associated with alport syndrome"

lowe syndrome

"weill-marchesani syndrome, hyperlysinemia, lowe's syndrome, alports syndrome, congenital rubella, peters anomaly"

"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)"

"phpv, anterior polar, por posterior lenticonus -> tx by 6-8 weeks"

oil droplet cataract

"x-linked defect of AA metabolism -> congenital cataract in 100%, microphakia, retianed lens nuclei, glaucoma -> renal tubular acidosis, aminoaciduria, renal rickets, MR, "

"x-linked traid of anterior lenticonus, deafness, and hemorrhagic nephropathy -> diagnosis by lack of alpha-5 type IV collagen in basement membranes)"

"lowe syndrome, hallermann-streiff syndrome (birdlike facies), rubella"

snow flake cataract

"15%, develops 5-6 years after sx"

"congenital (<3 months old), infantile (3 motnhs-3 years), juvenile (3 years-35 yrs)"

cyp1b1

"keatmine, succinylcholine; halothane, thiopental, tranquilizers and barbituates lower IOP"

"perform in child < 1.5 yo, TM incised under direct gonioscopic visualization, requires clear cornea, 77% success rate"

"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"

"trab with mmc, drainage implant, cycloablation of CB"

60 degree diameter of ON

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

"engorged, turtous vessels around disc, vitreous haze, iris vascular congestion"

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

plus disease in zone 1 or posterior zone 2 - very rapdily progressive

"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"

cryo preserves VA in eyes with threshold disease

"4-6 weeks after birth or 30 weeks gestation (whichever is later), then q2weeks until vessels reach zone 3"

"similar to ROP, macular dragging with vascaulr peripheral retina, fibrovascular proliferation, dragging of disc and macula, RD"

"xlinked recessive -> defect of retinal detachment -> b/l leukocoria, retinal dysplasia, peripheral NV, hemorrhagic RD, retinal necrosis -> deafness, mental retardation"

"AR, ABCA4 gene -> b/l yellow white flecks at RPE predomintly involving peripheral retina"

"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"

"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"

abnormal EOG < 1.5 in best disease

"central pigmentary disturbance, good central vision, normal ERG and abnormal EOG > may develop CNV -> 3 types: sjogrens reticular, butterfly, adult vitelliform"

"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"

"infantile form of RP, oculodigital sign (child rubs eyes to elicit entopic stimulation), diffuse absence of photoreceptors, ERG is low or flat"

"small white spots in midperipehry of retina, no bone spicules (variant of RP)"

"most common syndrome associated with RP, USH2A -> RP and deafness, ataxia, MR, rickets, muscle wasting"

"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"

"RP syndrome with pigmentary reitnopathy with flat ERG, MR, hypogonadism, short stature (polydactyl and obesity in biedhl-bardet and spastic paraplegia in lawrence moon)"

"AR, decreased va in 5th decade -> yellow-white refractile spots throughout fundus, geographic atrophy, may have crystals in peripehral corneal stroma"

"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"

type of CSNB with midperipheral deep yellow-white spots sparing the macula (alports syndrome has retinal apearance similar to this)

"mizuo-nakaruma phenomenon (golden brown fundus in light state, normal colored fundus in dark state)"

"progressive disorder of choriocapillaris, considered a form of rod-cone degeneration -> defect in choroidal vasculature"

"defect of ornithine aminotrasnferase with eleated ornithine levels, low lysine levles -> restrict arginine and protein in diet, B6 supplementation (pyridoxine reduces ornithine)"

"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)"

"cleave at NFL and fovea, inferotemporal peripehry, XLRS1 gene"

outer plexiform layer

"rare vitreotapetoretinal degeneration with nyctalopia and constricted visual fields -> optically empty vitreous, retinoschisis, bone spicule RPE changes, cataracts"

"vitreous liquefaction and optically empty vitreous, no RD, lattice-like changes, cataract, moderate myopia, optic atrophy"

"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)"

"anbnormaly level of red pigment, green pigment, blue pigment"

"uniltaeral retinal hemorrhages, cellular infiltration of vitreous, retina, optic nerve, roth spots, CWS, htereochormia irides, pseudohypopyon, spontaenous hyphema, uveitic glaucoma"

"port wine stain, tomato ketchup fundus, peripheral retinal AV malformations, iris angiomas, congenital glaucoma"

"triad of adenoma sebaceum, mental retardation, epilepsy -> astrocytic hamartoma of the reitna and optic nerve -> ash leaf spots, caf au lait spots"

"racemose hemangioma of retina, also av malformations in brain, orbit and facial bones"

"cluster of intraretinal aneurysms filled with venous blood -> cluster of grapes, vit heme is rare"

"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"

"hamartomas (retinal capillary hemangiomas, retinal angiomas)of eye, brain, kidney, adrenal gland"

"only in females -> proliferative retinal vasculopathy (resembles ROP), RD, retrolental membrane -> microcephaly, hydrocephalus, seizures, mental deficiency"

"represents dysplastic coloboma, seen in high myopia, may be associated with cranial defects or other ocular abnromalities"

"Kjer's syndrome, behr's syndrome, wolfram syndrome, LHON"

"maternal mitochondrial DNA point mutations in mitochodrial gene for NADH -> disc hyperemia, peripapillary telangiectatic vessels, NFL edema, late disc pallor, cardiac conduction defects"

"fusion of sheats of inferior rectus and inferior oblique, attaches to medial and lateral retinaculi and supports globe"

"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"

"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"

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

bagolini lenses (glases have no dioptri cpower but have narrow striatiosn runing at 45 and 135 degrees)

deviatoni measured when normal eye fixing

deviation measured when paretic eye fixing (larger than primary deviation)

displacement in degrees of the pupillary axis form the optic axis

fovea is temporal to pupillary axis

consistent use of a nonfoveal region fo retina for monocular viewing in an amylopic eye

"cover 1 eye, nystagmus converts to jerk away from covered eye"

"increases in congenital, decreases in latent"

"congenital esotroipa, DVD"

"in latent nystagmus, intensity increases when looking toward fast phase and decreases whenlooking toward slow phase (fast gets faster, slow gets slower)"

pendular nystagmus due to visual loss

"eye movements (fine rapid eye movements), head nodding/bobbing, toritcollis -> need to r/o tumor with neuroimaging"

overaccomodation to dampen nystagmus results in ET at near (usually large)

near deviation - distance deviation; high ratio if > 10-15 pD difference

"consider bifocals, miotics, surgery"

refractive accomodative ET in people with high hyperoipa (high AC/A ratio people have mild hyperopia) -> give the full cycloplegic refraction

"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"

"XT greater at near than at distance -> exacerbated by fatigu, drugs, uveitis, adie's tonic pupil, head truama, systemic illnesses"

"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"

"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)"

cn 6 and 7 palsy -> due to aplasia of involved brain stem nuclei

"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"

procedure used to strengthen superio roblique by shortening the tendon ( can produce browns syndrome)

"anterior temporal displacement of anterior half of SO tendon, used to correct exclyclotorsion"