Ophthalmology Retina

Front 1

Phacomatosis

Back 1

(Von=pheo (von reckling & Von Hippel Lindau); W=no genetic link (Wyburn, Weber)

Front 2

Louis Barr

Back 2

(ataxia-telangiectasia)
AR; no retinal changes; cutaneous (retroauricular, malar, popliteal fossa) & conj telangiectasia, diffuse cerebellar atrophy, thymic aplasia/IgA deficiency, recurrent sinopulmonary infections; die middle age from pulmonary infections, leukemia/lymphoma

Front 3

Wyburn Mason

Back 3

(racemose hemangioma)
AV malformations w/ dilated tortuous vessels in retina & brain; no known pattern of inheritance; +subretinal fluid & exudates; typically unilateral

Front 4

VHL

Back 4

“angiomatous retinae”
chr 3 AD w/ irregular penetrance & variable expressivity;
80%-sporadic; 25 % are assoc. w/ Renal cell carcinoma & cysts (pancreas, liver, kidney); capillary hemangiomas (not macroaneurysm), pheochromocytomas, hemangioblastomas of CNS ( vertigo & ataxia) & viscera;
+subretinal fluid & exudate increased risk for RD + NVI

Front 5

Bournevilles

Back 5

(Tuberous Sclerosis Chr 9 & 16; AD w/ irregular penetrance; 80%=sporadic; seizures, MR, astrocytic hamartomas (calcified CNS & retina lesions), adenoma sebaceum (facial hemangiofibromas—looks like acne), café au lait, ash leaf spots (shagreen patches), peri-ungual fibromas

Front 6

Sturge-Weber

Back 6

(encephalo-trigmenial angiomatosis)
no genetic link; port wine stain, ipsilateral intracranial hemangioma, contralateral seizures, MR, glaucoma; incracranial calcification assoc w/ pial angiomatosis; diffuse choroidal hemangiomas

Front 7

NF

Back 7

AD w/ complete penetrance & variable expressivity; 50%=sporadic; 5+ café au lait spots >0.5cm; >99% have spots; 5-10% have CNS tumors; increased risk for Wilms, neurofibrosarcomas, rhabdo, pheo, leukemia; >90% of NF pts >6y/o have Lisch nodules; 50%=plexiform neurofibroma (“bag of worms”) of upper lidptosis + glaucoma; absence of sphenoid wing (pulsatile proptosis), pheochromocytomas, T2 bilateral acoustic schwannomas; ocular= astrocytic hamartomas, optic nerve gliomas, enlarged K nerves

Front 8

NF1

Back 8

Plexiform neurofibroma, intertrigenous freckles, unilateral optic glioma, 2+ Lisch nodules, sphenoidal dysplasia

Front 9

NF2

Back 9

Bilateral acoustic neuromas, PSC

Front 10

ERM

Back 10

==etiology from peripheral retinal holes-->allows RPE migration-->transform into fibroblast like cells-->ERM
-- idiopathic=20% bilateral & 75% keep VA >20/50

Front 11

Bietti crystalline corneo-retinal dystrophy

Back 11

DDx=cystinosis, myeloma limbal corneal opacities & tapetoretinal dystrophy

Front 12

bulls eye macula-pathy Ddx

Back 12

cone dystrophy, stargardt’s (juvenile mac degen), ceroid lipofuscinosis, chloroquine induced retinopathy, Batten’s, rarely RP

Front 13

Cscr

Back 13

90% resolve
50% recur
-Mult hypopig=prior episodes w/ RPE atrophy
-Tx (grid) fif >4mo, prior vision loss, job demands
- Serous neurosensory RD
- DDx: optic pits, choroidal NV, nevi or melanoma

Front 14

CME

Back 14

OPL

Front 15

Mac hole

Back 15

-Stage 1=no benefit to air/fluid exchange
- FA=window due to RPE atrophy

Front 16

CRVO

Back 16

typically thrombosis at lamina cribrosa;
Risk factors: HTN, IOP, DM, hyperopia, hypercoag (proteinemias (MM), syphilis, sarcoid, hypersensitivity, other vasculitides), age, ESR (WOMEN ONLY!!); dilated veins; if non-ischemic, 48% resolve w/out tx; ischemic=poor prognosis (90% end up <20/400), NV w/in 4 mo==5% (non-ischemic), 20-30% (indeterminate), X% (ischemic); acutely may --> angle closure (vitreous swells due to transudate), chronically may -->angle closure (NVA); Risk reduced by EtOH & exogenous estrogen

Front 17

BRVO

Back 17

superotemporal (66%) @ AV crossing; risk factors: HTN & ?COAG
Complications: : acute: macular edema & nonperfusion, hemorrhage; chronic=macular edema, subretinal fibrosis, NVE; >5DD nonperfusion 31% risk of NV

Front 18

CRAO

Back 18

risk factors: migraine (33% in young), trauma, hypercoag, emboli, collagen vascular disorders, IV drug use, elderly—atherosclerosis; NV in 15-20%; Proposed tx: hyperbaric O2, carbogen, vasodilatory drugs, IOP reduction, fibrinolytics (intra-arterial tPA); dilated veins; poor prognosis (66% end up <20/400)

Front 19

BRAO

Back 19

causes: fat emboli, cardiac myxoma, talc emboli (IV drug use), MV Prolapse, vasculitides (SLE), connective tissue d/o

Front 20

Carotid occlusion

Back 20

dilated veins, midperipheral blot heme (should NOT see many (if any) CWS

Front 21

Macroaneurysm

Back 21

elderly, HTN, atherosclerosis. Complications: VH, ME, exudates; can have heme at all levels (sub, intra, pre-retinal); treat around aneurysm w/ laser (direct laserhemorrhage)

Front 22

Idiopathic juxtafoveal telangiectasias

Back 22

T1=congenital=version of Coats (forme fruste), often unilateral Males, exudate may respond to laser; T2&3 = acquired=middle age pts, micro resembles DR (no stimuli for NV) (not true telangiectasias!), often bilateral, men=women; normally temp to fovea. Complications=ME, exudates, choroidal NV; T2=+assoc w/ DM

Front 23

Eales (idiopathic primary retinal vasculitis)

Back 23

young boys (India), bilateral, assoc w/ TB, epistaxis, potentially lethal cerebral vasculitis, constipation; good visual prognosis w/ scatter PRP for NV; meniers like vestibulocochlear symptoms + sensorineural hearing loss

Front 24

Retinal telangiectasia (Coats dx, Lebers miliary aneurysms)

Back 24

sporadic; unilat (90%), males (85% (7:1)), bimodal (cong (18mo-10y/o) (<4y/o=more fulminant), teens/twenties), exudative RD, no systemic involvement; intraretinal & subretinal lipid from telangiectatis vesselsleukocoria + strabismus; 2/3exud RD; Tx=cryo or PRP; buckle for RD; up to 50% are non-progressive

Front 25

Vasculitides
DDx:

Back 25

MS, PAN, SLE, Behcets, GCA, Wegeners, sarcoid, HO, syphilis, toxoplasmosis, IV drug abuse, lyme, TB, Eales, pars planitis; complication: CME

Front 26

Sickle cell

Back 26

salmon patch (subretinal heme), sea fan NV, sunbursts (RPE hypertrophy/hyperplasia), VH, TRD, angioid streaks; can have heme at all levels (sub, intra, pre-retinal); (SC(33%)>SThal(14%)>SS(<0.5%)>SA(8%))

Front 27

Roth Spots

Back 27

septic emboli (endocarditis, candidemia), leukemia, collagen vascular diseases

Front 28

Incontinentia pigmentia

Back 28

peripheral retina capillary nonperfusion, av shunts, fibrovascular proliferation, NVE

Front 29

Choroidal effusions:

Back 29

Post op—thought to be from rapid IOP changes shearing choroidal perforating arteries
Risk factors: HTN, atherosclerosis

Front 30

Uveal effusion syndrome

Back 30

abnormally short eyes w/ thickened sclera-->impedes vortex venous outflow-->recurrent choroidal effusions
Tx: unrewarding; place partial thickness scleral windows near vortex Vein in at least 3 quad;

Front 31

HTN

Back 31

-acute: fibrinoid necrosis of choroidal arterioles
-Chronic: clinically silent choroidal response
-Choroidal disease=Elschnig spots, exudative RD, acute increase in IOP

Front 32

DIC

Back 32

fibrinoid necrosis of choriocapillaris, serous RD, multiple areas of RPE changes

Front 33

elschnig spots

Back 33

black RPE clumps/atrophy overlying ischemic choroid spot surrounded by red/yellow halos--caused by extreme HTN

Front 34

Morning glory disc

Back 34

unilat; excavated nerve /w overlying glial prolif-->surrounding retina folds--> increased risk of RD

Front 35

optic nerve Pit

Back 35

like a small coloboma; commonly inferotemporal; assoc w/ serous elevation of macula (2nd/3rd decade of life)

Front 36

optic nerve hypoplasia

Back 36

pale ON; surrounding pigment around ON-->double ring; strab, amblyopia, nystagmus, APD; DDx: fetal EtOH, maternal LSD, quinine, phenytoin, aniridia
De Morsier’s syndrome (septo-optic dysplasia): ON hypoplasia, hypothalamic & pit dysfxn (growth retardation)

Front 37

hyaloids remnant

Back 37

Small=bergmeister’s papilla; large=PHPF;
Mittendorf dot=haloid vessel remnant on post lens capsule

Front 38

myelinated ON

Back 38

abn myelination past lamina cribrosa; more common in boys

Front 39

optic nerve coloboma

Back 39

failure of fetal fissure to close; commonly inferonasally; non-rheg RD (usually involving mac)

Front 40

optic nerve drusen

Back 40

AD; whites, 50%=bilateral; intra-axonal calcification of mitochondria; visual loss due to axonal compression, subretinal heme, CNVM; Associations: Pagets, Ehlers Danlos, sickle cell, PXE

Front 41

optic nerve edema

Back 41

caused by cessation of axonal transport w/ axonal swelling

Front 42

tilted optic nerve

Back 42

Superior is prominent w/ inf/inferonasal scleral crescent w/ superotemp VF loss (crosses midline); assoc w/ situs inversus

Front 43

Pars plana cysts

Back 43

16-18%. Contain mucopolysaccharides; several in MM pts containing myeloma proteins

Front 44

Meridional complex

Back 44

increased risk of RRD
redundant retinal folds in same meridian as ciliary process (typically superonasal) ;

Front 45

Angioid Streaks

Back 45

Breaks in Bruchs—underlying choriod very prominent—at risk for CNV
On FA=radiating hyperfluorescent lines are window defects
Associations: (PEPSI) pagets, Ehlers Danlos, PXE, SCD, Idiopathic (50%)

Front 46

paget’s:

Back 46

osteoclastic hyperactivity esp at base of skull & long bones, prone to fxrs

Front 47

Ehlers Danlos:

Back 47

dislocated lenses, RD, blue sclera, keratoglobus; defect in collagen synthesis-->lax skin & hyperflexible

Front 48

pseudoxanthoma elasticum:

Back 48

peau d’orange retina, ONH drusen; recurrent stomach & bowel hemorrhage due to vascular malformations; plucked chicken skin

Front 49

JXR

Back 49

cleavage of retina at NFL; photoreceptors are unaffected therefore ERG a-wave is normal but both b-waves are reduced; macula is involved early; microcysts & radiating retinal folds in parafoveal spoke-wheel configuration w/out leakage on FA; late: peripheral bullous schisis --> obliteratation of NFL & baring of BVs --> shear BV-->VH--> vit veils & strands

Front 50

Reticular retinoschisis

Back 50

involutional splitting of NFL due to hole/tear; early: microcystoid peripheral retinal degeneration

Front 51

Senile/ degenerative retinoschisis

Back 51

splitting at OPL; nearly all are assoc w/ peripheral cystoid degeneration next to schisis cavity; >70%=hyperopes; 50-80% bilateral; posterior to equatorasymptomatic absolute scotoma by perimetry

Front 52

Doynes honeycomb dystrophy

Back 52

Familial drusen;
AD; asymptomatic changes in 3rd decade of life; symptoms=4th or 5th decades; ERG=normal or mildly dec

Front 53

exudative RD

Back 53

Causes: VHK, toxemia of pregnancy, CMV retinitis (uncommon), intraocular tumors; ***smooth dome w/ shifting subretinal fluid

Front 54

TRD

Back 54

causes: DM, FEVR, ROP

Front 55

RRD

Back 55

causes: hole/tear, JXR; signs: shafers, fixed folds, equatorial traction folds, demarcation lines, low IOP, undulating retina w/eye movement

Front 56

Shafer sign

Back 56

tobacco dust=RPE clumps in vitreous=RRD

Front 57

retinal tear

Back 57

Giant: 3 clock hours
after symptomatic PVD=10%

Front 58

Fuchs spots

Back 58

punched out chorioretinal atrophy in macula of high myopes

Front 59

Choroideremia

Back 59

XLR; rod/cone degen; carriers=normal ERG; boys; progressive night blindness; preserved central vision until much later in life; scalloped RPE atrophy (like gyrate atrophy)

Front 60

Cone dystrophies

Back 60

usually AR but familial cases can be AD; onset 1st/2nd decades w/ dec central vision, color blindnesss, photophobia; symptoms typically precede clinical macular changes (bull’s eye or salt/pepper stippling); rare form=choroidal/RPE atrophy resembling stargardt’s; +assoc w/ temporal optic atrophy; ERG=abn single flash photopic & flicker; bilateral 20/60-20/400

Front 61

Achromatopsia
“rod monochromatism”

Back 61

AR, (no cones), color blindness, 20/200, photophobia, nystagmus; fundus & EOG=normal

Front 62

Blue monochromatism

Back 62

XL; missing red & green cones—left with only blue (“S”) cones (about 2% or all cones) & rods; visual acuity 20/60-20/200

Front 63

Goldmann-Favre

Back 63

chr 15 AR, vit strands & veils, optically empty vit, foveal & peripheral retinoschisis (clinically looks like CME or mac schisis but w/out leakage on FA), attenuated BVs, ON pallor, RPE changes, cataract; abn ERG & EOG; abnormally high s-cones at expense of loss of other photoreceptors (very sensitive to blue colors)

Front 64

RP

Back 64

50%=sporadic, 25%=AD, 15%=AR, 10%=XL (worst); ERG=increased rod threshold w/ normal cone response & dec scotopic b wave--> progresses to nonrecordable ERG; EOG=abnormal; early VF=interotemp scotoma-->ring/annular scotoma; fundus=attenuation of BVs, mid-peripheral perivascular RPE changes (bone spiculing)(except sine pigmento) & ON pallor & drusen; assoc w/ myopia, vit opacities, psc, RPE atrophy, CME, glaucoma, k-cone, ERM, large areas of macular atrophy, mild tritan (blue-yellow indiscrimination)

Front 65

Juv XL RP

Back 65

carriers have dec ERG, female carriers-->midperipheral pigment changes & choroid atrophy

Front 66

Usher

Back 66

RP + cong deafness; Type I (AR) & III=vestibular dysfunction; if profound deafness, more ikly to have cerebellar atrophy (also consider Waardenburg syndrome, Alport syndrome, and Refsum disease)

Front 67

Bardet-Biedl

Back 67

RP + polydactyly, truncal obesity, kidney dysfunction (severe), short stature, subnormal intelligence

Front 68

lebers cong amaurosis

Back 68

cong form of RP typically AR; born blind (flat ERG) w/ normal fundus at birth; sensory nystagmus; oculodigital massage; 5-10% have hearing loss; assoc w/ keratoconus & high hyperopia

Front 69

Retinitis punctata albescens

Back 69

White specks instead of pigmented. Looks like fundus albipunctatus, but is progressive; acts clinically like retinitis pigmentosa and results in progressive visual field loss, night-blindness, and retinal vascular attenuation.

Front 70

CSNB

Back 70

infantile onset; ERG=normal to near normal photopic but absent scotopic

Front 71

CSNB normal fundus

Back 71

lifelong stable abnormal scotopic vision (normal rod #, but poor rod vision due to communication problem btwn proximal photoreceptor & bipolar cell; XL (most common), AD (French Nougaret pedigree), AR; VA range from normal-20/200; S/Sx: nystagmus, decreased VA, myopia, nyctalopia; ERG=”negative”

Front 72

Fundus Albi-punctatus

Back 72

CSNB: AR, recovery after light stress takes hours; if dark adapted for hours, scotopic ERG becomes normal; VA & color only slightly decreased; fundus=”starry night” white spots of posterior pole sparing fovea

Front 73

Fleck retina of Kandori

Back 73

CSNB; AR, Japanese, Relatively large, irregular, yellowish flecks, sharply border-lined without pigmentation underneath retinal vessels and usually in the midperiphery; poor dark adaptation; normal photopic electroretinographic response; delay in generation of the scotopic response

Front 74

Oguchi’s disease:

Back 74

CSNB: XLR; +assoc. w/ Mizuo-Nakamura phenomenon; slow dark adaptation but rhodopsin regeneration is normal; problem=retinal circuitry not visual pigments

Front 75

Mizuo-Nakamura phenomenon

Back 75

appearance of golden brown fundus in light adapted state w/ normalization of color of fundus on dark adaptation

Front 76

white dot syndromes with a Viral prodrome:

Back 76

AMPPE, MEWS, Lebers neuroretinitis

Front 77

PIC
(Punctate inner choroidopathy)

Back 77

1 of white dot syndromes: 30-40’s; healthy women, bilateral, mild-mod myopia, assoc. w/ recurrent CNVM

Front 78

AMPPE

Back 78

20-40’s; up to 50% w/ h/o viral prodrome; males=females, bilateral (may be asymmetric); severe dec VA early but improves in 4-6 weeks; white placoid lesions at level of RPE & choriocapillaris in acute phase; minimal to no vitritis; fade in 4 weeks RPE disruption; very rare—CNVM; steroids do not help; waxing /waning /recurrent /relentless progression that may  permanent vision loss; +assoc cerebral vasculitis; FA=early hypo/late hyper; rarely, perivascular staining

Front 79

MEWDS

Back 79

30-40’s; viral prodrome, females; shimmering photopsias & paracentral scotomas (enlarged blind spot); 3-10 wks to resolution; 10-15% recur in either eye; granular fovea; no AC rxn; FA=early punctate hyper w/ wreath like configurationlate staining; also late disc staining

Front 80

Serpiginous

Back 80

(geographic helicoids peripapillary choroidopathy): bilateral, chronic, recurrent, indolent disease of unk etiology; adults; painless vision loss; spread occurs over months to years; very poor prognosis; Tx=steroids or immunosuppressive agents

Front 81

Radiation Retinopathy

Back 81

threshold=3000rad (30Gy)

Front 82

Solar retinopathy

Back 82

minimal visual loss, resolves over time w/ RPE scar in fovea; causes=sun gazing & arc welding & prolonged ocular surgery

Front 83

Stargardt’s

Back 83

AR ; lipofuscin accumulation in RPE (pisciform lesions)=”silent choroid” on FA w/ artifactuous mottled hyper macula; ERG=low normal; if mostly peripheral=”fundus flavimaculatus”; presenting sx=decreased central VA

Front 84

Bests

Back 84

AD, abn EOG (<1.7) in carriers, asymptomatic pts w/ normal fundi, & affected pts; normal ERG; vitelliform stage=cyst lesions (4-10 y/o), 1-5 DD w/ good central VA-->
scambled egg w/ good vision-->mac atrophy w/ CNVM, heme & serous RPE detachment-->VA drops to 20/100 or worse