Diseases Flashcards
Blepharophimosis Syndrome
Features (3)
Mgmt (5)
Features
-ptosis + telecanthus + epicanthus inversus +blepharophimosis (horizontally narrow palpebral fissure) + strabismus
-refractive error
-amblyopia
Mgmt
-genetic counseling: AD, FOXL2 on chr 3
-if female: endocrine/gynecology eval for premature ovarian failure
-if refractive error: glasses
-if amblyopia: patch
-surgery: delay as may improve w age. Will be multi-stage: epicanthus and telecanthus sx -> ptosis sx (frontalis sling)
Sturge-Weber Syndrome
features (8)
mgmt (5)
Features:
-port wine stain
-telangiectatic conj vessels
-glaucoma (epiphora, photophobia, blepharospasm, K edema, haab striae, increased K diameter, elevated IOP, high iris insertion, long axial length)
-iris heterochromia
-choroidal hemangioma
-leptomeningeal angiomatosis (enhancement on MRI)
-seizures
-mental retardation
Management:
-IOP: gtts except brimonidine in peds 2/2 CNS depression, oral acetazolamide, goniotomy if good view/trabeculuotomy in peds, tubes in adults
-choroidal hemangioma: if vision limiting, consider radiation
-refractive error: correction
-amblyopia: patch (start w 2hrs engaged time /day)
-neurology referral for seizures / mental retardation
-dermatology referral for port wine stain laser
Herpes
Features (13)
RFs (3)
Management (9)
Features:
-skin rash (multi focal vesicles -> crusting), dermatomal distribution in zoster only, not simplex. Hutchinson’s sign = tip of nose rash = v1 involvement = more likely to have HZO
-fever
-pain
-follicular conjunctivitis
-decreased K sensation
-K dendrites (HSV has terminal bulb, VZV is raised *zorro had no cap to his sword and is often found in high places)
-disciform keratitis, interstitial keratitis, K pannus, K scarring
-KP, AC cell
-trabeculitis
-iris atrophy (patch = HSV, sectoral = VZV *zorro was a local legend)
-vitritis
-retinal necrosis
-optic neuritis
-CN palsy (more serious infection -> workup for HIV and admit for IV acyclovir to prevent disseminated disease like encephalitis and cerebral vasculitis and Guillaine Barre)
-post-herpetic neuralgia
RFs:
-stress
-immunocompromise
-sun exposure
Mgmt
-if immunocompromised: IV acyclovir
-if immunocompetent and local:
–HSV: PO acyclovir 400 3x/day
–VZV: PO acyclovir 800 5x/day
–topical abx ointment for conj/k/skin lesions
-if K disciform keratitis (and no epi defect): topical steroid
-if uveitis (and no epi defect): topical steroid + cycloplegic
-if retinitis:
–IV acyclovir x 1wk -> PO acyclovir 800 5x/day for 2wks w possible extension
–intravitreal foscarnet and ganciclovir
–PO steroid 48hrs later
–PRP to cordon areas of retinal necrosis to minmimize RD
-if post-herpetic neuralgia: cool compresses + capsaicin cream + gabapentin
-counsel:
–lower risk of sequelae if treated within 72hrs of onset
–typically resolves in 14days w good prognosis unless retinal necrosis
–may need indefinite ppx if frequent recurrence
Vernal Conjunctivitis
Features (5)
Mgmt (2)
-seasonal, usually in young boys
-eye irritation w mucoid discharge
-superior palpebral giant papillary conjunctivitis
-shield ulcer
-horner trantas dots
-antihistamine / mast cell stabilizer / pulse topical steroids
-cool compress / minimize contact w allergen
atopic keratoconjunctivitis
Features (5)
Mgmt (2)
-year round
-atopy (eczema, asthma)
-upper and lower palpebral papillary conjunctivitis
-extensive K vascularization / subepithelial fibrosis
-anterior or posterior subcapsular cataract
-antihistamine / mast cell stabilizer / pulse topical steroids
-cool compress / lubricate
Aniridia
Features (6)
Mgmt (4)
-K pannus and opacification later in childhood 2/2 limbal stem cell def
-glaucoma 2/2 blockage of TM by rudimentary iris
-anterior polar cataracts
-foveal hypoplasia
-ON hypoplasia
-photosensitivity
-manage K LSCD: lubricate -> amniotic membrane -> tx but poor prognosis
-manage glaucoma: gtts, PO diamox, trabeculotomy is no view, goniotomy if view, filtering procedure
-manage cataract: defer until more signifcant than foveal hypoplasia; expect zonular weakness
-refer to peds for workup of possible systemic associations (WAGR or Gillespie)
-counsel:
–glaucoma and limbal stem cell deficiency and cataract and foveal / ON hypoplasia
–can be genetic or sporadic. Most have no systemic associations but minority a/w WAGR (wilm’s tumor, aniridia, genitourinary, retardation) or Gillespie syndrome (ataxia and intellectual disability)
–20/200 vision
ICE
Features (3)
mgmt (2)
?herpes -> abnormal endothelial cloning
- iris nevus: iris nodules formed by contracting endo membrane
- chandler: K edema w beaten metal appearance + reversal of light dark pattern on specular microscopy
- essential iris atrophy
-gtts except xlt 2/2 risk of uveitis and CAI 2/2 endo dysfunction
-trabeculectomy or filtering surgery
Superior Limbic Keratitis
Features (3)
Mgmt (4)
- 60F w FBS, pain localized superiorly
- fluorescein/lissemine green/rose bengal staining of upper K and superior limbus
-superior bulbar and palpebral conj inflammation including papillae
-lubrication or CL for symptomatic relief
-check for thyroid dysfunction as SLK is a/w thyroid disease
-no gold standard in management, just various anti-inflammatories and immunosuppressants, all with various response
-chronic mgmt, improves over time
Size cutoff of melanoma based on COMS
all <=16mm basal:
-small: 1-3mm
-medium: 2.5-10mm
-large: >10mm
> 16mm basal = large
within 2mm of optic disc + >8mm apical = large
How to interpret A-scan
PPMD
Features (4)
ddx
mgmt
posterior polymorphous corneal dystrophy
-AD and bilateral and progressive
-wide range of presentation; most are asymptomatic but can have pain
-multilayered endo that look and behave like epi -> K vesicles / bands, K edema, corectopia, iridocorneal adhesions
-glaucoma (both open and closed)
-specular microscopy: vesicles and bands
-ICE
-Fuch’s
-Axenfield-Rieger
-Peter’s anomaly
-if asx: observe
-if elevated IOP: glaucoma drops
-if severe: DMEK or PK
-prognosis highly variable, depending on severity
uveitis-glaucoma-hyphema
features (3)
mgmt (4)
-misplaced IOL -> chafing -> pigmentary dispersion -> iris TID -> recurrent hyphemas -> elevated IOP -> glaucoma
-chronic inflammation (AC cell, speudohypopyon, posterior synechiae, vitritis, CME)
-NVI
Mgmt:
-uveitis: steroids gtts
-glaucoma: gtts, PO diamox. AVOID pilo due to increased chafing.
-hyphema: HoB elevation, limit activity, cycloplegic and steroid gtts
-definitive: re-positioning of IOL
ddx for open angle elevated IOP
- heme: hemolytic, ghost cell
- material: PXF, pigmentary, melanocytic, Schwartz-Matsuo
- inflammatory: herpetic, possner-schlossman, fuch’s heterochromic iridocyclitis
- lens: phacolytic, phacoanaphylactic
- steroid response
- uncontrolled glaucoma
poor vision for a long time p/w severe pain x 2days: ddx
lens related glaucoma:
phacolytic: leaky capsule -> flare
phacoantigenic: mutton fat KP (pictured)
phacomorphic: mass effect of large lens -> shallow AC
lens particle: macroscopic lens pieces, usually iatrogenic
FA
normal phases
hyperfluorescence
hypofluorescence
nerve & choroid @ 10s -> retina @ 15s, artery -> capillary -> vein, peaks @ 30s -> recirculation @ 5min -> leaves retinal vessels @ 10min
Hyperfluorescence: SPLAT
-staining (drusen, disc, PPA): increases in intensity but not size
-pooling (PED): increases in intensity and size to an extent
-leakage (NV): increases in intensity and size
-autofluorescence (lipofuscin in RPE, blocked by macular photopigment and photoreceptor)
-transmission = window defect (RPE atrophy): most prominent early on, during choroidal flush
Hypofluorescence:
-ischemia
-blockage
leakage on FA -> dx?
CME
pooling on FA -> dx?
PED
window defect on FA -> dx?
geographic atrophy
Pattern dystrophies
-what is it?
-5 categories
-presentation
-dx
-systemic associations
-mgmt
a group of AD macular diseases characterized by various patterns of pigment deposition within the macula. RPE is diseased -> lipofuscin accumulation.
5 categories:
1. Adult-onset Foveomacular Vitelliform Dystrophy
2. Butterfly-shaped Pigment Dystrophy (BPD)
3. Reticular Dystrophy
4. Multifocal Pattern Dystrophy Simulating Stargardt’s Disease
5. Fundus Pulverulentus
usually incidental findings due to mild symptoms of slight decrease in VA and metamorphopsia.
dx is clinical.
systemic associations: pseudoxanthoma elasticum, myotonic dystrophy, maternally inherited diabetes and deafness
tx: none
counsel: risk of CNV and need for anti-VEGF
fundus autofluorescence
Hyperfluorecence
Hypofluorescence
lipofuscin in healthy RPE
hyper:
- increased lipofuscin accumulation (diseased RPE)
- increased transmission (loss of macular photopigment and photoreceptor)
- optic disc drusen
- SRF in CSCR
hypo:
- RPE atrophy
- heme
pattern dsytrophy -> dx
fundus pulverulentus (easily confused w AMD)
pattern dystrophy -> dx
reticular dystrophy
pattern dystrophy -> dx
Butterfly-shaped Pigment Dystrophy
pattern dsytrophy -> dx
adult onset foveamacular vitelliform distrophy
White dot syndromes
-oldest onset
-female only
-unilateral
-poor prognosis
-lethal complication
-at least moderate vitritis
-HLA associations
-tx
yellow-white retinal lesions in RPE in young adults
-Birdshot Chorioretinopathy: oldest; HLA A29; steroids -> cyclosporine
-Punctate Inner Choroiditis (PIC): female only, no vitritis; no tx
-MEWDS: unilateral; no tx
-serpiginous: poor prognosis, B7; no vitritis; steroids
-Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPEE); flu-like B7, DR2; cerebral vasculitis, no tx
-Multifocal Choroiditis and Panuveitis (MCP): steroids
no vitritis: ssppp (serpiginous, sspe, port, poh, pic)
ERG
retina electrical potential in response to flash of light
diagnoses generalized retinal degeneration
EOG
voltage difference between inner and outer retina = trans-RPE potential: requires normal RPE AND sensory retina to be normal
Arden ratio: ratio of light to dark peak. 2:1 is normal; <1.65 is abnormal.
solar retinopathy
features
FA
prognosis
- > 90sec of direct sungazing, a/w solar eclipse, psych, drugs
- VA can range from 20/20 to 20/100
- yellow-white spot in fovea -> lamellar hole
- FA staining of damaged RPE, no leakage
-usually returns to 20/20 to 20/40 within 6mo
POHS
pathophysiology
risk factor
what to look for on exam
mgmt
prognosis
hematogenous spread of histoplasma to choroid -> inflammation -> breaks in bruch’s membrane -> scarring +/- CNV
-mississippi and ohio river valleys
-traid: PPA + multiple punched-out chorioretinal scars + maculopathy
-no cell
-CNV
anti-VEGF any active CNV, otherwise no treatment, amsler grid
unlikely to progress once queiscent; quit smoking to decrease risk of CNV
ddx for CNV
wet AMD
POHS
multifocal choroiditis (prompt pic)
angiod streaks (answer pic)
pathologic myopia
idiopathic
young adult p/w flu-like prodrome -> decreased VA bilaterally. White dot fundus.
-dx
-FA
-ICG
-FAF
-lethal complication?
mgmt
APMPPE (autoimmune inflammatory disorder)
-FA: early hypofluorescence -> late staining
-ICG: persistent hypofluorescence
-FAF: dark (RPE atrophy) w bright borders (actively inflamed)
-cerebral vasculitis
-usually self limiting requiring no treatment, resolves after 1mo
-good prognosis
-refer to neuro 2/2 risk of cerebral vasculitis, which can benefit from steroids
young myopic female w unilateral central vision loss and photopsias
-dx?
-other exam feature
-tests
-mgmt
MEWDS
subtle RAPD w enlarged blind spot (love is a little blind and crazy)
FA: wreath like hyperfluorescence
FAF: hyper
ERG: decreased A-wave (love is also a little dumb)
monitor for self resolution in 1- 2mo
permanent pigment changes can results but good prognosis
middle aged adult p/w painless loss of vision
-dx?
-FA
-ICG
-FAF
-prognosis
serpiginous
-FA hypo to late lesion staining
-ICG lesions hypo
-FAF hyper lesions surrounded by hypo
-poor -> sequelae like CNV, fibrosis, edema
> 40yo female p/w bilateral decreased vision, nyctalopia, loss of color vision and peripheral VF
-dx
-test
-FA
-ICG
-ERG
-mgmt
birdshot
-A29
-FA perifoveal leakage and CME, early quenching
-more lesions than visible clinically
-ERG decreased scotopic response (rod dysfunction) = diminished b waves
-topical and systemic steroid -> cyclosporin
-counsel re steroid sequelae (osteoporosis, weight gain, glaucoma)
-tx can stabilize or improve otherwise steady decline in vision
-monitor q2-4mo
young (20-50) female >male (thus not APMPEE)
-FA: acute lesions block, older lesions window defect (hypo -> hyper)
-FAF: hypo (answer picture)
-OCT: discontinuous outer segment
dx
description
mgmt
complication
multifocal choroiditis
-exam: multiple white lesions at level of choroid -> atrophic, pan-uveitis
-mgmt: topical + systemic steroids -> immunosuppression
-complications: CNV (offer anti-VEGF)
-monitor weekly -> space out to 4-6mo
young myopic woman p/w acute scotomas and photopsias
dx? (not MEWDS)
PIC
feature of CSCR
PED: under the RPE, can be clear or solid
A: fibrovascular PED (=type 1 CNV)
B: no PED
C: small PED (=drusen)
D. serrous (hypo) / hemorrhagic (hyper dome w blocking underneath) PED
what is this feature of AMD?
CNV: 3 variants, all solid
1. below RPE (= vascular PED, PCV Is a variant of this)
2. above RPE (classic)
3. intra-retinal (=RAP, retinal angiomatous proliferation)
feature of AMD
geographic atrophy
K dystrophy: dx?
sxs
mgmt
prognosis
Macular
onset 1st decade -> progressive glare and worsening vision
diffuse edema
if epi erosion (less common than lattice or granular): lubrciate, abx, BCL
when severe: PK
poor prognosis, usually needs PK by mid age
K dystrophy: dx?
sxs
eval
mgmt
Granular
asymptomatic -> progressive glare and worsening vision
TGFBI genetic testing (AD)
if epi erosion: lubrciate, abx, BCL
when severe: PK
good prognosis
K dystrophy: dx?
sxs
eval
mgmt
Lattice
onset 1st decade: episodes of redness and pain; progressive worsening vision
masked faces, peripheral nerve palsies
*climbing corporate ladder = makes face, red, pain; falling off a ladder = nerve damage
TGFBI genetic testing (AD)
when epi erosion occurs: lubricate, abx, BCL
when severe: PK
K dystrophy: dx?
Schnyder
K dystrophy: dx?
Reis Bucklers / Thiel-Behnke
K dystrophy: dx?
Meesman
VKH
3 features + other sxs
What is it?
ddx
OCT
FA
LP
labs
mgmt
Viral prodrome
Ko (bilateral)
Hot disc (disc edema) + retina (serous RD) + choroid (choroiditis - Dalen Fuchs nodules - also seen in SO)
Tinnitus
convalescent stage: alopecia, vitiligo, poliosis
autoimmune disease in 4 stages: flu -> uveitic -> convalescent -> recurrent
infectious: cat scratch, lyme
inflammatory: white dot, SO, sarcoid, lupus
mets
OCT serous retinal detachment
FA patchy hyperfluorescence and leakage in the retina and peri-papillary
LP pleocytosis
rule out TB/syphilis/lyme/bartonella/uveitis
IV steroid -> PO steroid -> immunosuppressant (cyclosporine)
follow weekly -> space out
young adult p/w painless vision loss and photopsias -> dx?
if flu-like prodrome
if panuveitis vs. moderate vitritis vs. no vitritis
if unilateral and smaller lesions?
If linear lesions?
if CNV?
APMPEE / MEWDS
MFC vs. birdshot vs. PIC
MEWDS
Serpiginous
MFC / PIC
When to get FA
- ?leakage
- ?vasculitis (answer pic)
dx?
calcified fundus lesion, minimally elevated, scalloped borders
choroidal osteoma
management of lattice degeneration
observe unless
- retinal flap with traction
- h/o retinal detachment
- retinal dialysis (picture)
monitor q6mo. Risk of RD is <1%
Asshole saying (ash leaf spots):
zits (facial angiofibroma and periungal fibromas)
fits (seizures)
dimwits (intellectual disability)
dx?
ocular features?
mgmt
Tuberous sclerosis
retinal astrocytic hamartoma
glc (2/2 NVG, VH or RD)
OCT to characterize mass
genetic testing for TSC (not required for dx)
-co-manage w medicine for systemic sequelae (other masses on heart, lung, kidneys and brain)
-observe (lesions are usually asymptomatic)
features of xanthogranuloma
testing
mgmt
prognosis
skin nodules (biopsy = foamy histiocytes and touton giant cells)
conj nodules (yellowish, unlike dermoid)
iris nodules (yellow, vascularized, picture)
spontaneous hyphema
eval:
AS-OCT (thin, flat, epi-iris without stromal infiltration)
consider biopsy (exicsional is diagnostic and therapeutic)
mgmt:
-co-manage w peds for other organ involvements
-for iris lesions: steroid gtts -> consider PO steroids vs. excisional biopsy
-usually regresses in first 5yrs of life, good prognosis without complications like glaucoma
Lacrimal gland tumors:
most common benign vs. malignant
presentation
how to diagnose
mgmt
MC benign: pleomorphic adenoma (painless, no bony erosion on CT, mixed tissue on path, prompt pic) - needs complete excisional biopsy to prevent malignant transformation
MC malignant: adenoic cystic carcinoma (painful, bony erosion on CT, cribriform on path, answer pic) - exenteration including bone to clear margins, chemo + radiation, poor prognosis
