macular disease Flashcards
PHP (preferential hyperacuity analyzer)
PHP = visual field analyzer used specifically to detect new-onset NVAMD and to distinguish it from NNVAMD.
More sensitive than Amsler grid screening.
Uses the “Vernier acuity phenomenon” which is based on our ability to perceive a small difference in the spatial localization of two or more stimuli.
permits the detection of early metamorphopsia caused by the displacement of photoreceptors by a choroidal neovascular membrane.
CSCR (central serous chorioretinopathy)
Idiopathic* serous RD w/ multifocal PEDs, RPE changes & mottled atrophy
Usually in young males (25-50 yo)
usually OU**
Risks?
steroids, stress, type A personality
FA & OCT?
FA: expansile dot (common), smokestack
OCT: thickened choroid (?increased hydrostatic pressure in choroid)
Treatment?
Observation (self-limited 3-4mo)
Treat (w/PDT) if >3-4mo (b/c 90% spontaneously resolve), recurrent, permanent changes
Laser speeds recovery, not VA outcome
PDT (half-fluence), rifampin, spironolactone
no Rx if patient has good VA
- pathophysiology 2/2 choriocapillaris hyperpermeability and choroidal congestion
- *Typically see THICKENED CHOROIDS in both eyes of patients with CSR on enhanced-depth imaging OCT even if they only have SRF in one eye.
A) Anti-VEGF therapy is minimally effective for CSCR when a secondary choroidal neovascular membrane is absent.
Focal macular photocoagulation is an effective treatment option for symptomatic and vision-reducing subretinal fluid that fails to resolve after 3-4 months. This option is best when the leakage found on FA is NOT within 500 microns of the central macula.
Mac Tel (idiopathic juxtafoveolar retinal telangiectasis) aka Parafoveal (Juxtafoveal) Telengiectasias
Many patients present with Sx in one eye only.
early angiographic findings = late staining of the retina, often in an oval configuration.
earliest clinical feature = graying of the retina temporal to the fovea. Only in the later stages of the disease does pigmentary migration occur.
Most patients retain good vision in at least one eye.
MCC of visual loss = atrophy of the retinal pigment epithelium. CNV membranes may also occur.
DFE: usually shows a parafoveal gray area and most of the FA abnormalities are centered in this temporal parafoveal area.
Capillary anomalies usually temporal to fovea
Risk of CME and choroidal NV
3 groups? (Gass-Blodi classification)
1. Aneurysmal (1A: >2 clock hrs; 1B: = venules that turn 90 degrees and dive INTO the retina which causes the venules to appear like they end before they actually do.
Abnormal glucose tolerance test
Group 2A staging?
Stage 1: diffuse hyperfluorescence in late FA
Stage 2: reduced parafoveal retinal transparency
Stage 3: dilated right-angle venules
Stage 4: intraretinal pigment plaques/clumps
Stage 5: vascular membranes
- Occlusive (A: no CNS; B: +CNS vasculopathy)
Bilateral, visible telangiectasias; min exudates; capillary occlusion; optic disc pallor; more VA loss
Pathological myopia
Forster-Fuchs (i.e. not Dalen-Fuchs) spots can be found in pathologic myopia = dark spots due to RPE hyperplasia that presumably occur in response to a small choroidal neovascular lesion that does not progress.
Individuals with pathologic myopia have a spherical equivalent > -8.00 D and/or an axial length > 32.5 mm. Other findings found in pathologic myopia include:
optic disc tilting with extensive peripapillary atrophy lacquer cracks posterior staphyloma atrophy of the RPE and choroid elongation/atrophy of the ciliary body lattice, cystoid, paving-stone degeneration choroidal neovascularization peripheral retinal holes.
Geographic atrophy in a young person?
central areolar choroidal dystrophy (CACD):
well-defined and bilaterally symmetric central areas of atrophy which affect the RPE and choriocapillaris. As a result, the large choroidal vessels are readily seen underneath.
In the DDx for geographic atrophy but
- younger (Onset at age 30-40s)
- AD (typically) (Chr 6; RDS/peripherin)
- lack of abnormalities on electrophysiologic studies
- relatively normal choroidal flush
chromosome 6p (RDS [peripherin]), 17p13 (CACD)
• Decreased vision in 40s
• early nonspecific RPE mottling in macula progressing to geographic atrophy (choroidal vessels visible)
• FA: (early and late window defects of central lesion)
• ERG: normal (or subnormal), EOG, dark adaptation:normal
Similar to GA, but in a young person
Associated with dominant drusen
AD macular dystrophies
Best disease Progressive Cone Dystrophy Pattern dystrophy Familial Drusen (Doyne’s Honeycomb Dystrophy) central areolar choroidal dystrophy (CACD) NC macular dystrophy Pseudoinflammatory Macular Dystrophy (Sorsby’s)
Mnemonic: best progressive cone & pattern honeycomb in central NC is at Sorsby’s
EOG of Best’s dz
the EOG is always abnormal
NC macular dystrophy
Inheritance: AD (6q14, mcdr1)
Non-progressive; Surprisingly good vision
• “Staphylomatous w/ big macular scar”: Onset in 1st decade with drusen progressing to
chorioretinal atrophy with staphyloma of macula
• May develop CNV
• ERG, EOG, and dark adaptation: normal
Patients with North Carolina macular dystrophy typically reach their final visual acuity (~20/50-20/200) by late puberty, which contrasts the later onset of CACD.
CME in RP pts
Cystoid macular edema (CME) can appear in patients with retinitis pigmentosa. If visually significant, it may respond well to oral carbonic anhydrase inhibitors like acetazolamide. CME that is not responsive to acetazolamide may show improvement with intravitreal triamcinolone.
PCV (polypoidal choroidal vasculopathy)
Mnemonic: PCV/polys/peripapillary/pigmented
Distinct CNV with predilection for PERIPAPILLARY area in PIGMENTED races (More common in blacks and Asians but not exclusive to those races. However just about all blacks with AMD have PCV as well).
Dilated choroidal vascular polyps –> serous and hemorrhagic detachments of retina and RPE.
Minimal to no cystic edema of overlying retina (even w/severe SRH)
Best diagnostic tech: ICG
EVEREST trail showed that PDT + ranibizumab better than either modality alone.
AMD genes
Mutations in certain genes, associated with the alternative complement pathway, have been implicated in the pathogenesis of AMD. Specifically, mutations in the genes HTRA1 and LOC387715 have been implicated as being responsible for approximately three-fourths of the genetic risk of AMD.
AMD genes
Mutations in certain genes, associated with the alternative complement pathway, have been implicated in the pathogenesis of AMD.
Specifically, mutations in the genes HTRA1 and LOC387715 have been implicated as being responsible for approximately three-fourths of the genetic risk of AMD.
Retina dialysis and trauma
Traumatic retinal breaks are most commonly of the retinal dialysis variety. Retinal dialyses are usually located in the inferotemporal quadrant at the posterior border of the vitreous base.
Abnormal EOG with normal ERG
Familial Drusen (Doyne’s Honeycomb Dystrophy), Best’s
Drusen in a young person?
Familial Drusen (Doyne’s Honeycomb Dystrophy or malattia Leventinese)
Inheritance AD (EFEMP1, CFH)
• Small yellow-white, round to oval deposits on Bruch’s membrane; has elements of BOTH cuticular (basal laminar) drusen & reticular pseudodrusen
• decreased vision after age 40 (Onset at age 20s)
• Complications: macular edema, hemorrhage, CNV
• ERG: normal, EOG: abnormal
Clinical findings?
Good vision; normal ERG/EOG
Increased risk of AMD
AMD/CNVM like picture in patients less than
age 50?
Pseudoinflammatory Macular Dystrophy (Sorsby’s)
Another name for Sorsby’s
Pseudoinflammatory Macular Dystrophy
AD (Ch 22q; TIMP3)
Lipid deposits between RPE & Bruch’s membrane
Symptoms/Signs? Decreased VA/color in age 40-50s Subfoveal CNV OU common • Atrophy, edema, hemorrhage, and exudate Spreads from center to periphery
ERG/EOG?
ERG/EOG abnormal late; Dark adaptation: delayed
Prognosis?
Poor
Sjögren’s reticular pattern dystrophy
fishnet configuration; fishnet is hypofluorescent
on FA
Pattern macular dystrophies typically present in
which period of life?
Answer: 40s (age 20-40s)
Pattern Dystrophy (AD) (most RDS/peripherin)
Midlife onset with central vision loss or metamorphopsia, good prognosis
• Variable central yellow-gray pigmentation at RPE
– Variability even among family members
– Absence of yellow flecks from other maculopathies
- Normal ERG; borderline EOG abnormality
- May develop CNVM
4 types?
1) Adult-onset vitelliform dystrophy =
Yellow subfoveal lesions (~1/3DD w/ pigment)
2) Butterfly Dystrophy = Gray-yellow butterfly lesion
3) Reticular Dystrophy (Sjogren’s) = Fishnet configuration (hypofluorescent on FA)
4) Fundus Pulverulentus = coarse RPE mottling
CNV rare
What is the difference between Best and
Adult Vitelliform?
In Adult Vitelliform:
Age 30-50
• CNV is more common
• Normal EOG
Progressive Cone Dystrophy (AD)
AD; progressive dysfunction of cones with NORMAL rod function
• Onset first 3 decades
• Sx: visual loss, photophobia (precede visible macular changes)
• decreased vision (to 20/200), and color vision, central scotoma, macular degeneration with granular appearance then beaten-metal appearance
• FA: window defects EARLY
• ERG absent photopic, normal scotopic
• EOG normal
• Dark adaptation: rod phase only
Bull’s eye maculopathy Ddx
• Stargardt/fundus Flavimaculatus • Cone dystrophy • (Hydroxy)chloroquine toxicity – Tx for malaria, rheumatoid arthritis • ARMD • Chronic macular hole
SATCH: Stargardt/AMD/Toxicity (hydroxy/chloroquine), Cone dystrophy/Hole
Stationary Cone Disorders - complete rod monochromatism
Present at birth; nonprogressive
• Complete rod monochromatism (congenital achromatopsia) (AR):
– absent or abnormal cones, chromosome 14
– decreased vision (20/200 level), complete color blindness, photophobia,
nystagmus, normal retinal examination
– VF: central scotoma; ERG: normal scotopic, abnormal photopic
Stationary Cone Disorders - blue cone monochromatism
Present at birth; nonprogressive
• Blue cone monochromatism (X-linked recessive):
– have only blue-sensitive cones
– Findings: decreased vision (20/40-20/200), photoaversion, nystagmus
– ERG: absent cone response, normal rod response
Bietti Crystalline retinopathy
AR
• yellow refractile deposits (crystals) throughout fundus
and corneal stroma
• lysosomes of fibroblasts have cystalline deposits
• ERG - reduced
• FA - multiple areas of RPE depigmentation and choriocapillaris nonperfusion
vitreomacular traction (VMT)
incomplete separation of the posterior vitreous at the macula –>CME and shallow RD
Si/Sx: decreased and distorted vision
DFE: abnormal vitreous opacity overlying the macular region with traction on the macula and also the optic nerve. Because of this traction, FA may show leakage of dye from the macular retinal vessels and from the optic disc.
VMT is a subset of epiretinal membrane. Glial cells are the predominant cell type involved. Surgical correction of VMT has been demonstrated to result in visual improvement of two lines or greater in 75% of eyes.
VMT injection Rx
Ocriplasmin = recombinant protease that targets fibronectin and laminin.
At day 28, 26% of ocriplasmin injected eyes had resolution of vitreomacular adhesion vs. 10% of placebo-injected eyes.
Ddx of serous RD?
CNV (+leakage) PCV (saccular outpouchings) ON pit (no leakage) VKH / SO posterior scleritis lymphoma pre-eclampsia / severe HTN choroidal tumor toxoplasmosis / syphilis
Cuticular (Basal Laminar) Drusen?
Type of early hard drusen (age 30-40s)
Many small, uniform, demarcated drusen, better seen on FA with
“stars-in-the-sky” appearance
May develop large vitelliform detachment
Reticular Pseudodrusen?
Interlacing network of 125-250um drusen
First appear in superotemporal macula
Better seen on red-free, NOT on FA /ICG
“Sawtooth” subretinal deposits on OCT
Dry AMD association/hard vs soft/size
Associated with?
age, smoking, +FHx, female, light iris, hyperopia, HTN, hyperchol
Drusen
Hard vs. Soft? Hard: nodular thickening of BM of RPE Soft: focal PED (separation from Bruch’s) Basal Laminar vs. Linear deposits? Electron microscopy characterization BLamD: between plasma & BM of RPE BLinD: external to BM of RPE
Size?
Small 124um
Dry AMD Treatment & criteria & components
Treatment
AREDS
Components?
Vitamins C & E, beta carotene, copper, zinc
25% reduction in progression to advanced AMD
19% reduction in VA loss over 5 yrs
Criteria?
Bilateral intermediate (many int or 1 large)
Unilateral advanced AMD (wet AMD or GA)
Avoid in smokers?
Beta carotene
AREDS 2
Components?
Antioxidants w/o beta carotene
Omega-3 fatty acid
Xanthophylls (zeaxanthine, lutein)
Others
Immunomodulation: Copaxone (subQ NSAID)
Neuroprotection: Brimonidine (inc BDNF, dec glial activation); CNTF (e.g. secreting liposomes)
Ddx of GA?
Mitochondrial myopathies, central areolar choroidal dystrophy
Geographic Atrophy Autofluorescence (AF)?
Decreased AF w/ ring of increased AF
predict areas of GA expansion
Choroidal Neovascularization (CNV)
Classificaton? Type 1 = Under RPE Type 2 = Between RPE + photoreceptors Type 3 Retinal angiomatous proliferations (RAP)
Types Predominantly Classic (>49% classic) Minimally Classic (<49% classic) Occult w/o Classic (no classic)
Classic Definitions of CNV (classic/occult)
Classic Definitions?
1) Classic CNV = Early hyper + late leakage
2) Occult CNV =
Stippled/granular early hyper + late stain
2 types: fibrovascular PED vs. late leakage of undetermined source
Retinal Angiomatous Proliferation (RAP) Yannuzzi Classification?
Stage 1 Intraretinal NV / leakage Stage 2 Subretinal NV + serous PED Stage 3 Choroidal NV + fibrovascular PED FA: retinochoroidal anastamoses
Myopic degeneration
High vs Pathologic myopia?
High: >-6.00D, >26.5mm
Pathologic: >-8.00, >32.5mm
Findings?
Lacquer cracks
- can cause round, deep SRH that clears spontaneously (not CNV)
Forster-Fuchs spots
- dark spots from subretinal or intraretinal RPE hyperplasia
Posterior staphyloma
Cobblestone, lattice, cystoid degeneration
Treatment?
Subfoveal: PDT (VIP), anti-VEGF
Extra/juxtafoveal: anti-VEGF, no data for laser
Epiretinal Membrane (ERM)
Can be idiopathic or secondary to vascular occlusions, inflammation, surgery, trauma, or retinal breaks (allows RPE migration onto retina)
Stable (>75% maintain >20/50)
Treatment? PPV/MP if VA <20/50 or severe metamorphopsia 66-75% has VA improvement 80% get cataracts 2-7% recurs
VMT
VMA with traction
Treatment?
PPV/MP (risks unknown)
Ocriplasmin (microplasmin)
Truncated form of plasmin
MIVI-TRUST Study: OCP > placebo in VMA resolutn (26 vs 12%) OCP > placebo in MH closure (40% vs 25%) OCP > placebo in VA gain (12% vs 9%) Better if phakic, no ERM
Terson Syndrome
Vitreous + subhyaloid heme caused by acute rise in ICP
30% subarachnoid or subdural hemorrhage have intraocular heme
Treatment?
PPV (works well)
Ochre Membrane
Heme on posterior surface of detached vitreous
Synchysis scintillans
Refractile, yellow cholesterol crystals in vitreous after resolution of VH
Purtscher Retinopathy
Usually peripapillary hemorrhages, cotton-wool spots, & edema after acute compression injuries to head or thorax
FA: arteriolar leakage
Etiology?
injury-induced complement activation & granulocyte aggregation
Causes of Purtscher-like Retinopathy?
Acute pancreatitis SLE (Lupus) Amniotic fluid embolism Fat embolism Renal failure Retrobulbar anesthesia
Solar Maculopathy
Small yellow foveolar spot that evolves to a small MH
OCT: loss of IS/OS band + small discrete defect
Caused by sun-gazing or arc welding, usu. occurring ~2wks after exposure
Increased risk from psoralen or tetracycline
VA usu. returns to normal
Acute Macular Neuroretinopathy
Subacute vision loss + paracentral scotomas
Usu. unilateral
Permanent or transient
Dark triangular macula patches at outer retina
OCT: IS/OS defects
Dx: multifocal ERG
Torpedo Maculopathy
Temporal RPE defect pointing toward fovea
Similar to CHRPE
Congenital defect in RPE
OCT: retinal thinning & inc RPE hyperreflectivity
Irvine-Gass Syndrome
CME after cataract surgery
~6-10wks post-op; <6mo duration
~95% spontaneously resolve
Treatment?
NSAIDs (gtt)
Steroid (gtt or PSTK)
CAIs (gtt or PO)
Adult Retinoschisis
Split at what layer (2 types)?
OPL (involutional / senile)
NFL (reticular)
Common location? Frequency of bilateral?
Inferotemporal; 50-80% bilateral
Arises from peripheral cystoid degeneration
Risk of progression to RD = 3%
How to distinguish from RD? Absolute scotoma (vs. relative in RD) Blanches with laser Associated with hyperopia Smooth, dome-shaped appearance Shafer sign rare
Adult-onset Vitelliform Macular Dystrophy
Inheritance?
AD (RDS/peripherin, PRPH2)
Clinical findings?
Onset at age 20-40s
Similar to Best, but usu. asymmetric
Central dark spot
Also good prognosis, unless CNV
Gyrate atrophy
Inheritance? Enzyme defect?
AR (Ch 10q26)
Ornithine aminotransferase
Symptoms?
Nyctalopia in 1st-2nd decades, VF + VA loss
Clinical signs? Peripheral paving-stone + scalloped border PSC High myopia Decreased EOG; normal ERG
Serum levels?
High ornithine; low lysine
Treatment?
Vit B6 supplements > restrict arginine
Choroideremia
Inheritance? Enzyme defect?
XR (Xq21; CHM gene)
Geranyl-geranyl transferase (rab escort protein)
Symptoms?
Night blindness, photophobia in 1st-2nd decade, constricted VF
Central VA stable into age 40-50s
Clinical signs?
Absence of RPE + choriocapillaris except in macula
Decreased ERG & EOG
Female carriers have?
Salt and pepper fundus
Cherry-Red Spot
Mnemonic: Gleeful Cherries Take Some Time (to) Nuture
Gangliosidoses
CRAO
Tay-Sachs
Sandhoff
Trauma
Niemann-Pick
RDS/peripherin
RP CC RP Pattern dystrophy Central areolar choroidal dystrophy Cone-rod dystrophy
Salt & Pepper FundusDDx
Leber congenital amaurosis
Rubella retinopathy
Congenital syphilis
CPEO
CARriers:
Choroideremia
Albinism
RP (also abnormal ERG)
NOT juvenile retinoschisis
