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
