2: CONGENTIAL ANOMALIES
Myelinated nerve fibers
- No loss of visual function
- will have an enlarged blind spot
- can see striations in NFL
- doesn’t have to be at ONH
Malignant Melanoma
- lesion is 1) growing, 2) destructive
- orange lipofuscin = potential malignancy
Uveal Melanoma
- Most common 1 malignant intraocular
tumor in Caucasians
- age detection depends on location of tumor
Iris before ciliary body & choroid
- malignancy potential, lesions: >3mm wide,
>1mm thick, intrinsic vasculature, destructive
- most common site for metastasis = liver
Coloboma
- failure of the fetal fissure to close
- inferior staphyloma is common w/ coloboma
- high risk of RD- retina is fragile @ coloboma
- Leukocoria: retinoblastoma, toxo, coloboma
Iris melanoma
retinal
CHRPE (hypertrophy)
- sharp borders, black/pigment
- benign,  cell size
- lacunae = pigment dropout
- bilateral = Gardner’s, AD, cancer
- may have associated field defect
Ciliary body melanoma
- sentinel vessels, or extrascleral extension
- highly malignant, poor prognosis
- sxs: blurry vision, pain, VF defect
Optic pit
- most often inferior temporal & unilateral
- 60% have cilio-retinal artery
- present w/ arcuate scotoma, no VA effect
- risk for serous maculopathy
RPE hyperlasia
-“spikier” than CHRPE
-  # of cells
Choroidal Nevus (benign melanoma)
- indistinct margins (under RPE), gray, <2DD
- overlying drusen (RPE)= old lesion
- NO associated field defect
- ddx: tumor has orange lipofuscin
Choroidal Hemangioma
- ddx melanoma: B-scan, FA
- fluoresce in late phase = hemangioma
Melanocytoma of ONH
- benign, slow growing, surface of ONH
- malignancy is rare
- asxs, monitor
Morning Glory Syndrome
- rare, non-inherited, “coloboma of disc”
- ONH atrophy, radiating vessels, unilateral
- filled w/ tissue  white spot, F>M
- absence of lamina cribosa
Optic Nerve Hypoplasia
- double-ring sign, underdeveloped, small
- leading cause of peds congential VA loss
- Septo Optic Dysplasia: 1) ON hypoplasia,
2) endocrine dysfxn, 3) no septum pellucidum
- Topless disc syndrome (superior segmental
optic nerve hypoplasia) usually bilateral,
mothers with Type 1 DM, sup NFL loss 
non-progressive inf VF loss, low birth wt.
Arteriole-Venous Malformations
- Anastamoses, direct communication
- A/V shunts in brain = Wyburn-Mason
Congenital Tortuosity
- both arteries & veins, reverse loops to ONH
- Venous stasis: only veins  BRVO, HTN
- Arteries: Pancoast tumor, sympathetic
Hyaloid Artery Remnant
- persists in 2%, benign
- Mittendorf dot = on posterior lens
Bergmeister’s Papilla
- tissue overlying ONH
Hyperplastic Vitreous (PHPV)
- unilateral, full-term infants
- vascularized membrane behind lens
- assoc w/: micropthalmus, cat, glauc
- inflammatory process  traction on retina
Posterior Staphyloma
- outpouching  retina thins  ONH tilts 
 VA  sclera weakens  choroid atrophy
-  (-) power for depth, 3 types…
- posterior: congenital, common
- inferior: coloboma, tilt around horz axis
- macular: tilts around vertical axis
- assoc w/: PVD, cat, glauc, lattice, VF defects
Pseudopapilledema
- swelling in the absence of  ICP
- no obscuration of vessels (NFL not opaque)
- sometimes term used for ONH drusen
Retinopathy Of Prematurity
- high risk: <30 wks, <3.31 lbs
-temporal retina: 1) demarcation line,
2) AV shunts, 3) neo tufts  “dragged disc”,
scarring, 4) tractional  total RD
Retrolental fibroplasias
-disc dragged temporally b/c neo into vitreous
3: OPTIC NERVE ANOMALIES
Hyoperope
-small disc & C/D, crowded
- “disk at risk” for ischemia (NA-ION)
Myope
-large disc, sclera crescent ( blind spot)
- oblique insertion, vertical major axis
ONH drusen = retained hyaline bodies, AD - size  w/ age, can  blindspot, fluoresce
- NO associated VF loss
- bleeding= b/c of inclusion bodies  VF loss
Papilledema
- swelling due to ↑ intracranial pressure
- bilateral, opacification of NFL, Paton’s folds
- reverse glaucoma, ONH pallor w/o cupping
- hyperemia (uncompensated), HA, CN6 palsy
- early= blind spot  blindness w/ NFL 
- r/o brain tumor!
Pseudotumor Cerebri
- ↑ ICP w/o tumor, mass, or cause of ICP
- dx of exclusion: r/o tumor, meds
- Dandy criteria: normal imaging/CSF
- 2 causes= drugs, weight gain
(obese females, blind spot), vitamin A
deficiency, anemia, sleep apnea
(obese males, central scotoma)
ONH atrophy 2 to intracranial mass/lesion
-signs/sxs=  color vision/VF/VA, weight loss,
vomiting in a.m., APD, pallor/cupping of ONH
Glioblastoma Multiform
- overall  in VF &  blindspot (Walters cried)
- bilateral swelling of ONH
Aneurysm of Internal Carotid
- slight  in peripheral VF w/  blindspot
- disc pallor
ADOA: Autosomal Dominant OA
- most common inherited atrophy
- slow VA loss, cecocentral scotoma
-SWAP > SAP (tritanopia)
-temporal nerve palor, inverted VF to color
LHON: Leber’s Hereditary OA
- most common mitochondrial dz
- most common optic atrophy
-sudden central  vision btwn 12-30 yo, M>F
-dyschromatopsia, cecocentral VF, temporal
disc pallor, loss of hearing, NFL loss in
papillomacular bundle, peripheral neuropathy
Optic Disc Edema w/ Macular Star
-AKA ODEMS, Leber’s Stellate Maculopathy
- unilateral, self-limiting (1wk), young pats
- assoc w/ virus/cat scratch fever b4 sxs
- ONH swelling, macular star, vitreous cells
AION: Anterior Ischemic ON
-amaurosis fugax 6 mos prior, unilateral
-AION: 75yo, GCA, APD, pale top ½ ONH
-NA-ION: 62yo, disc at risk, vascular dz,
hyperemic disc, APD, no cupping
-ONH edema, flame hemes, VF defect
Nutritional Amblyopia
- Thiamine Deficiency (B1)
- tobacco: central color loss BGR
- alcohol (pic): gradual  VA esp @ night,
APD, Central scotoma  w/ color stimulus,
temporal palor of disc
Papillitis
-↓ VA,  color vision, APD, central VF loss
- pats very symptomatic
- swelling 2 infection/inflammation
- ddx papilledema or PTC
- adults: MS; kids: post viral; older: GCA, DM
Optic Neuritis (secondary to MS)
- pain on eye mvmnt precedes vision loss
- F>M, ~31 yo, dx of exclusion
- Uthoff’s sign (hot), L’hermitte’s (shock,neck)
-VEP ↓ amplitudes, ↑ delay
- arsenic poisoning:
Acute: GI, cramps, arrhythmia, anemia
Chronic: dyschromotopsia, VF loss,
ONH pallor/atrophy, weight/hair loss,
hyperpigmentation on soles of feet
4: RETINAL MACULPATHIES
ddx
APD
Contrast
Brightness
Color
VEP
Photostress
Optic Nerve
(+) APD
Low SF
Reduced
Reduced
Delay
Normal
Macula
(-) APD
High SF
Normal
Normal
Normal
Delay
Stargardt Macular Dystrophy (AR)
- most frequent juvenile macular dystrophy
- beaten bronze macula, FA: dark choroid
- normal ERG, main sxs: reduced VA
- pisceform lesions (yellow flecks)
- 3 phenotypes, 4 stages in each phenotype
X-Linked Juvenile Retinoschisis
- splitting of neural retina only in macula
- NOT a detachment! Will have an absolute
scotoma & less opaque. Receptors intact.
- progresses 1-2nd decade, stable after
puberty, slow progression until 5-6th decade
-f lash ERG: A-wave, no B-wave
- petalloid/cystic pattern of macula
Central Serous Chorioretinopathy
- meatmorphopsia,  color perception, (-) FR
- relative central scotoma, hyperopic shift
- young males, steroid induced RPE 
- “smoke stack” on FA, tx = benign neflect
- patient sees central brown spot (?)
Fundus Flavimaculatus
- only yellow flecks in the macula = lipofuscin
- 85% show dark choroid
- r/o: bests, x-linked retinoschisis, N.Carolina
Best's Disease (VMD) (AD)
- Vitelliform Macular Dystrophy
- dx in 2nd decade, normal VA, metamorph.
-egg yolk macula  scrambled egg
-↓ EOG, normal ERG (only dz)
North Carolina Macular Dystrophy (AD)
- bilateral atrophy w/ loss photoreceptors/RPE
- nystagmus, stable  VA, early onset
- drusen, lesion w/ well-demarcated atrophy,
hyperpigment around edges… 3 grades
Irvine-Gass Syndrome
-CME after CAT surgery (1-6%), VA 20/40 (-)
- blurred central vision (#1 sxs), cystic ,
petalloid w/ FA, can lead to macular hole
- VA loss peaks @ 6-8 wks post-op
- 90% subside in 6 mos w/ no tx
Adult Onset Vitelleform Dystrophy
- no inheritance pattern,  EOG, normal ERG
- smaller yellow foveal deposits than Bests
Plaquenil Maculopathy (Chloroquine)
-bull’s eye maculopathy, paracentral scotoma
-corneal verticillata/vortex keratopathy
- boney spicules, dark RPE, ONH pallor
-↓ sensitivity to red
RPE Detachment: sharp boundary
(ddx neural retinal detachment: vague)
Epiretinal Membrane
- asxs, mild VA, glial cell proliferation on ILM
- assoc w/: vascular dz, trauma, PVD, idiopat
- still has good VA, pseudo hole= 20/20.
Familial Drusen (AD)
-temporal, bilateral, larger, may form a ring
5: RETINAL DYSTROPHIES
Macular Hole
- sxs:  central VA, central scotoma
- dark red spot w/ white ring of detachment
-yellow spots w/in the hole
-4 stages. full thickness = redder = 20/200
Cone-Rod Degeneration
- @ threshold, looks like macular degen.
-  VA in bright light, bony spicules
- scotoma in RP= cone 
- bull’s eye maculopathy
Retinitis Pigmentosa
- most common retinal degeneration
- sxs: nyctalopia, tunnel vision, slow onset
- bony spicules, attenuation of vessels, waxy
pallor of ONH, mottled appearance, PSC, CME
- VF = ring scotoma
AMD
-drusen: first indication, Gass’s Postulate
Changes in RPE. Precursors to all AMD
Usher’s Syndrome: deaf & RP over time
Bardet Biedl Syndrome (AR):
RP, polydactyly, obesity, retardation.
-macular color  (Signet ring) = wet
CSNB (X-linked) (Schubert-Bornschein)
-bright-flash ERG: normal A, absent B wave
-pradoxical pupil constriction, NO VF loss
-high myopia. No VF progression.
Fundus Albipunctatus
- night vision,  after dark adaptation
- many punctate deposits in retina
- stationary congenital night blindness
Rod Monochromacy (AR)
-complete color blindness, matches brightness
-photophobia, pendular nystagmus
- flat cone response, normal rod ERG
Albinism (AR)
-↓ VA, photophobia, nystagmus
-blonde fundus
-iris transillumination
- ocular albinism = x-linked
3. Von Hippel Landau (AD)
-tumor suppressor gene, adrenal problems
-retinal hemangioblastoma, renal cell cancer…
Albinoidism
- appears like albinism, but w/ good A
4. Tuberous Sclerosis (AD)
-seizures, retardation, skin/eye lesions
PHAKOMATOSES
Leber’s Congenital Amaurosis (AR)
- VA loss b4 6 mos, (-) pupil rxn, (-) ERG
- “wandering eyes”, fundus appears normal
- later: pale ON, attenuated vessels, RP
- severe photophobia, nystagmus, “S&P”
-bull’s eye macula (cone-rod dz)
(also in advanced Stargardt's)
1. Neurofibromatosis
-Lisch nodules (iris)
-café au lait spots
5. Wyburn-Mason (not inherited)
-A/V malformations (shunts) in eye/brain
- can be assoc w/ other vascular problems
Von Recklinghausen’s Dz (AD)
- NF-1: most common inherited dz assoc w/
optic nerve glioma. Café au lait spots & NF
- NF-2: no VA loss, CN8 masses, cats
2. Sturge-Weber (not inherited)
-neurocutaneous disorder w/ angiomas
-port wine stain along V1 & V2
-ipsilateral glaucoma, developmental disorder
6: RETINAL VASCULAR DZ
Diabetes
-venous dilation, microaneurysms, hemes,
CWS, venous beading, IRMA, neo
- MA: small red dots, hyperfluoresce
-severe NPDR: 4 hemes/MA, 2 CWS, 1 IRMA
BRVO (Branch Retinal Vein Occlusion)
- result of thrombus  lots of blood
- arterial compression of vein
- 2/3 occur in superior temporal quadrant
Non-granulomatous: anterior,
fine KPs, hypopyon, acute, (+) pain
cells in AC
CRVO
- 70-80% non-ischemic, 20-30% ischemic
- PDR: neo
7: UVEITIS
Granulomatous: posterior, iris nodules
clumped KPs (mutton fat KPs), (-) pain
cells in AC and vitreous
Sarcoidosis (granulomatous)
-20-50 yo BF, lung/TB, lacrimal gland-dry eye
-Koeppe (pupil margin), Busacca iris nodules
-glaucoma (synechiae or clogged TM)
-“candle-wax drippings” & vessel sheathing
- periphlebitis = pigment only around vessels
CRAO
- result of an embolus
- sxs: amaurosis fugax, acute  VA, 20/800
- M.F, 60 yo  severe permanent VA loss
- white/ischemic retina w/ cherry red spot
- optic nerve edema/pallor
- worry about rubeosis irides & iris atrophy
Ankylosing Spondylitis (non-gran)
-lower back pain (no pics)
JRA: Juvenile Rheumatoid Arthritis
- non-granulomatous. (+) ANA, (-) RA
- young F, cataracts, band keratopathy
- CSME: main cause of  VA in DM pats
Can occur at any stage, w/in 500 m
Hypertension
- arteriole sclerosis, A/V nicking, CWS, hemes,
retinal edema, papilledema
Sickle Cell Retinopathy
- pre-proliferative: tortuosity, salmon patch
hemes, sunburst lesions, silver/ghost wiring
- proliferative: sea fan neo, anastamoses,
vitreous heme, RD
VKH: Vogt-Koyanagi-Harada
- bilateral panuveitis,  VA serous detachment
-CNS signs: ears (tinnitus, vertigo)
- depigmentation: skin (vitiligo), hair (poliosis)
-2: CAT, GLC, choroid neo, fibrosis
Histoplasmosis
-: atrophic spots, peripapillary atrophy,
maculopathy b/c subretinal neo
- birds/bats, fungus, Miss-Ohio
- VF shows enlarged blindspot
Cytomegalovirus (CMV)
-AIDS, ketchup and mayo
Commotio Retinae
- permanent opacification following trauma
8: PERIPHERAL RETINA
Only concern is RD
Serpiginous Choroiditis
- a “white dot” syndrome, asxs, bilateral
- lesions of RPE & choriocapillaris
“vitreous is the villain”
A) BENIGN Retinal Degenerations
Snowflakes
Pavingstone
- focal chorioretinal atrophy = RPE dropout
Toxoplasmosis
-cats, protozoan, “headlights in a fog”
- most frequent cause of retinochoroiditis
- 3C’s: convulsions, calcification (of
arterioles), chorioretinitis
AIDS retinopathy
- hemes, MA, roth spot, CWS
Toxocariasis
-dog/cat roundworm
(looks worse than toxoplasmosis)
- most cases of elevated granulomas of disc
- big, white lesions, “spilled milk”
Trauma
-radial breaks around ONH
- open angle w/ pigment
Reticular Pigmetary Degeneration
- “Honeycomb”, looks like lattice, but isn’t
Equatorial Drusen
- not like drusen elsewhere, like “dirty snow”
Oral Chorioretinal Degeneration
Radially Oriented Sclerotic Vessels posterior
to equator
- looks like: snowflake, hyperplasia, & lattice
Trophic & Tractional Breaks
Pigment Clumping w/ Horseshoe tear
-blood vessel over tear is worrisome
Diffuses Chorioretinal Atrophy
- myopes, holes = vehicle for fluid  RD
-trophic= round holes
- tractional= linear, horseshoe
- worry re: inferior edges attached to retina
Paravesicular Vitreoretinal Detachment
- white = traction, risk of RD
Peripheral Cystoid Degeneration
- still like snowflakes, sclerotic vessels (?)
Snailtrack Degeneration
- similar to classic lattice, but “lattice” not as
easily seen. Worry about inferior holes.
RETINAL BREAKS = high risk of RD
Horseshoe Tears
- diffuse white area = fluid = subclinical RD
B) PREDISPOSE TO RD
- w/ traction = very high risk
Lattice degeneration
- sharply demarcated, circumferential thinning
- hole at edge & attached to retina is worse
- degeneration x-crossed by sclerotic vessels
Acquired Retinoschisis
-splitting of neural retina, doesn’t progress
-see 2 layers: less opaque, absolute scotoma
Operculated Round Tear
- traction has already pulled = NO risk of RD
Risk of bleed w/ vessel
- if tear is free-floating = NO risk of RD
White Without Pressure (WWOP)
-WWOP + no tear = normal
- significant w/ retinal break
- boundary is scalloped
-ddx RD: smooth edge, elevation
Retinal Tears/Detach w/ pigmented edges
-pigmented edges = “high water mark”
- long standing = no progression = safe
RPE Hyperplasia assoc with lattice
- pigment liberated from RPE, should also
have hypopigmentation.
- sclerotic vessel suggests ischemia
Acquired Retinoschisis w/ inner layer holes
- less opaque = inner layers, ≠ full thickness
Acquired Retinoschisis w/ inner & outer holes
- double dis-organization = schisis
- no place for vitreous to attach = safe break
Retinal Detachment