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COCO Retina Course Part 3
Terms in this set (59)
Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE):
F=M, bilateral, +AC rxn, and 50% can have vitritis, 50% viral etiology
A posterior uveitis WDS: usually viral prodrome, acute bilateral vision loss in young adults with yellow placoid lesions. No rx, good prognosis
Describe APMPPE on FA?
Early areas of lobular hypofluorescence with late hyperfluorescence staining
F=M, bilateral, 30% have vitritis, no AC rxn
A WDS. Recurrent inflammatory disease of choroid w/ serpiginous scarring pattern, usually in middle age and with worse prognosis than APMPEE. Etiology unknown. Course is chronic and recurrent.
Patients are older than in AMPEE
Treatment: intense immunosuppression
How is Serpiginous Choroidopathy different from APMPEE on FA?
Both have initial areas of hypo followed by late hyper in areas of inflammation but serpiginous has early margin staining with hyperfluorescence
Multiple Evanescent White Dot Syndrome (MEWDS)?
F>M, 80% unilateral, can have vitritis
A WDS. Characterized by acute onset, multiple small white dots in posterior pole that clear centrally 1st leaving subtle change in color. Usually unilateral decrease in Va, can have vitritis, and viral prodrome in 50%. Usually young, mid age myopes
No treatment usually necessary
Describe MEWDS on FA and ICG:
FA shows that each white dot is comprised of multiple punctate hyperfluorescent spots in a "wreath like" cluster around the fovea
ICG shows multiple hypo dots and hypo around optic nerve
F>M, bilateral, 30% ac rxn, 100% vitritis
WDS, occurs in middl age women. Has intense vitritis and many yelow white "birdshot" lesions greatest in nasal retina (spares macula). Can have CME, optic atrophy, and CNV. Usually bilateral. Can monitor with ERG
Treatment is immunosuppression
Describe Birdshot Retinochoriodopathy on FA?
Usually unremarkable, but can exhibit
in which dye rapidly faces from retinal circulation
What HLA isBirdshot Retinochoriodopathy associated with?
Multifocal Choroiditis and Panuveitis Syndrome:
F>M, 80% bilateral, 50% ac rxn, nearly 100% vitritis
A WDS, bilateral disease affecting young/mid age females. Etiology unknown. Bilateral vitritis, RPE disruption, and multifocal choroiditis that looks like histo spots but there is vitritis present. Must r/o syphilis/TB. Can have CNV, CME, ERM and prognosis is poor
Treatment is controversial, rule out infection then immunomodulation
What is Punctate Inner Choroidopathy:
F>M, bilateral, no ac rxn or vitritis
A WDS, occurs in women (90%) usually young health high myopes. Presents with prominent photopsias and bilatearl central vision loss. Small round yellow-white lesions in fundus that can coalesce for a serous RD. Prognosis good, usually does not recur.
Treat with observation or steroids
Acute Macular Neuroretinopathy?
Occurs in young females typically after viral prodrome causing paracentral scotomas.
Wedge shaped red-brown macular lesions
in outer retina, no vitritis.
No Rx, usually symptoms resolve
Recurrent systemic disease with triad of
Also can have arthritis, epididymitis, and intestinal ulcers.
More common in Mediterranean, Mid East, and SE Asia.
Posterior involvement can cause occlusive retinal vasculitis
Treatment: steroids or immunomodulation
Prognosis often poor due to progressive retinal ischemia from occlusive retinal vascilitis**
What HLA is Behcet's Disease associated with?
What is the leading cause of vision loss in Pars Planitis?
CME which can occur in up to 1/3 of patients
Describe the phases of VKH Syndrome
: flulike illness, meningismus, dysacusis
: Acute-onset bilateral granulomatous uveitis w/ vitritis and optic disc edema, yellow-white exudates at level of RPE, serous RD, PAIN. Last 2-6 weeks
: Uveitis subsides but depigmentation of skin/uvea can occur. "Sunset glow" fundus, Dalen-Fuchs nodules
: chronic and recurrent inflammation leading to cataract, CNV, glaucoma
What is the most common ocular infection in AIDS
Typically presents when CD4 count is < 50
Appears as areas of hemorrhage, exudate, and necrosis. Periphlebitis or frosted branch angiitis can occur.
Rx with IV ganciclovir or foscarnet for 2 weeks then PO meds. Ganciclovir implant or PO valganciclovir are alternatives.
Can also supplement with intravitreal injections.
Screen patients with CD4<50 q6 weeks and those <200 q3 months
What are adverse effects of ganciclovir?
Acute Retinal Necrosis (ARN):
A necrotizing herpetic retinitis. Starts with small areas of well demarcated retinal necrosis in periphery and quickly coalesce spreading to center. Iritis, episcleritis, vitritis may be present (more so than PORN). Usually immunocompetent
Bilateral in 20%
Early diagnosis can be made from PCR of vitreous tap
Rx with IV acyclovir or oral famciclovir/valaciclovir. Intravitreal injections of foscarnet or ganciclovir may benefit immunocompetent patients with severe sight-threatening disease.
Progressive Outer Retinal Necrosis (PORN):
Similar to ARN but in immunocompromised, lacks vitritis, iritis, episcleritis, and more rapid progression. Typically spares retinal vessels.
What is the most common fungus that causes endogenous endopthalmitis?
What is the most common fungus that causes endogenous endopthalmitis in liver transplantation?
What is the most common site of intraocular TB
In what stage of Syphilis does chorioretinitis usually occur?
What are typical findings in Cat Scratch Disease and what is the causative organism?
Systemic: regional LAD, fever, and malaise
Ocular: optic disc swelling, macular star formation, and yellow-white retinal infiltrates
Caused by Bartonella henselae
What are symptoms/signs of Congenital Toxoplasmosis?
, seizures, LAD, hepatosplenomegaly, rash, fever, and
How is toxoplasmosis treated?
Pyramethamine/Sulfadiazine + folic acid for 4-6 weeks.
Alternative: Trimethoprim/sulfamethoxazole, intravitreal clindamycin
Consider prednisone (0.5mg-1.0mg/kg) on day 3 to reduce inflammation
HIV patients require long term maintenance treatment
Severe uveitis, posterior segment granuloma, often with a fibrovascular stalk extending from the disc to the granuloma
Antihelminthic therapy is usually not effective. Local or systemic steroids are necessary.
Diffuse Unilateral Subacute Neuroretiniits (DUSN):
Rare condition that occurs in otherwise young, healthy patients due to the presence of subretinal nematode.
Acute phase: decreased vision, vitritis, papillitis, and crops of gray-white outer retinal lesions.
Late phase: retinal atrophy, optic atrophy, and diffuse rpe changes mistaken for RP
What organisms cause DUSN?
Describe Retinitis Pigmentosa (inheritance, fundus signs, ERG patterns, and DDX)
Can be AD, AR, or XR
Bone spicules, attenuated retinal vessels, and waxy optic disc pallor. Macula can show loss of foveal reflex and CME can be present
ERG shows loss or marked reduction of rod and cone signals. A and b-waves are reduced with characteristic b-wave prolongation. ERG can be undetectable late in disease course
DDx includes previous ophthalmic artery occlusion, diffuse uveitis, syphilis, paraneoplastic syndromes, and retinal drug toxicity
Describe the ERG in Lerber's Congenital Amaurosis?
Minimal to undetectable.
What is Lerber's Congenital Amaurosis?
Infantile/early childhood form of RP. Most are AR.
Typified by severely reduced vision from birth, wandering nystagmus,
undetectable or severely reduced ERG
, and normal fundus (thus called "amaurosis") in early stages. Can have black pigment clumping late.
Infants often have
ERG testing necessary to establish proper diagnosis. In Lerber's it is usually minimal or undetectable, differentiating LCA from dystrophic diseases in which the ERG response diminishes with age
What is a good way to treat CME in Retinitis Pigmentosa?
With CAIs such as acetazolamide PO
Describe Stargardt Disease (fundus flavimaculatus) (include inheritance, funds findings, and mutation)?
AR (can be AD)
Most common juvenile macular dystrophy causing foveal atrophy and discrete, yellow flecks in the RPE.
Vision typically ranges from 2050 to 20/200, fair acuity of 20/70 to 20/100 usually retained in at least one eye
which encodes an ATP-binding cassette (ABC) transporter protein in rod outer segments, leading to buildup of lipofuscin in the RPE
What is the most common juvenile macular dystrophy?
Describe Stargardt Disease on FA?
80% have "dark choroid". Very specific for the disease which is believed to represent masking of choroidal autofluorescence by lipofuscinlike pigment accumulation in the RPE
Also seen is multiple pisciform flecks and bull's eye maculopathy
What is the DDx for Bull's-Eye Maculopathy?
Cone and cone-rod dystrophies
Chronic macular hole
Central areolar choroidal dystrophy
Ceroid lipofuscinosis (Batten Disease)
What is Best Vitelliform Dystrophy (include inheritance, chromosome, and fundus findings)?
AD, Chromosome 11 (raise both index fingers into air if you are the "best")
A maculopathy causing a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Can progress to CNV in 20% of patients
What is the gene mutation in Best Disease and in Adult-Onset Foveomacular Vitelliform Dystrophy?
Best: mutation in Best1 (or VMD2) gene on chromosome 11 encoding the protein bestrophin (which localizes to the basolateral RPE membrane and is a chloride channel)
Adult-Onset Foveomacular Vitelliform Dystrophy: mutation in RDS/peripherin gene
Describe the ERG and EOG patterns in Best Disease
ERG is usually normal
EOG always abnormal showing a severe loss of the light response. Arden ratio is typically less than 1.5 and often near 1.1.
Adult-Onset Foveomacular Vitelliform Dystrophy:
Resembles best disease
A Pattern Dystrophy characterized by yellow subfoveal lesions that are bilateral, round, 1/3 DD in size, and often have a central pigmented spot. Appears in 4th-6th decades of life. EOG usually normal.
Caused by mutations in RDS/peripherin gene
Familial (Dominant) Drusen:
A highly variable phenotype of numerous drusen presenting at an earlier age often throughout whole retina and not just within vascular arcades.
Patients have higher risk of ARMD
What are the pattern dystrophies?
A group of disorders characterized by the development of a variety of patterns of yellow, orange, or gray pigment deposition at the level of the RPE in the macular. Typically in midlife.
Caused by mutations in the RDS/peripherin gene
Most common presentation is slightly diminished Va and mild metamorphopsia. Can be asymptomatic.
There is a small risk of CNV development.
Four major patterns:
Adult-Onset Foveomacular Vitelliform Dystrophy
Butterfly Dystrophy (image)
Reticular Dystrophy (image)
Lesions can also be pigmented
What is the most common mutation in the Pattern Dystrophies?
Mutation in RDS/peripherin gene
What is Sorsby Macular Dystrophy (include inheritance, gene mutation, and exam findings)?
which encodes for a tissue inhibitor of metalloproteinase.
Characterized by the development around age 40 of bilateral, subfoveal choroidal neovascular lesions. As these lesion evolve, they take on the appearance of geographic atrophy, with pronounced clumps of black pigmentation around the central ischemic and atrophic zone
List the different diffuse and regional Choroid Degenerations:
Central areolar choroidal dystrophy
North Caroline macular dystrophy
Describe Choroideremia (include inheritance, gene mutation, and fundus findings, and treatment):
which encodes for geranylgeranyl transferase Rab escort protein
A diffuse choroidal dystrophy y causing night blindness and progressive visual field loss. Onset usually in childhood but progression can be slow.
Different from RP in that there is marked RPE/choriocapillaris atrophy, normal retinal vessels, and absence of optic atrophy.
Describe Gyrate Atrophy (include inheritance, gene mutation, fundus findings, and treatment):
A diffuse choroidal dystrophy causing hyperpigmented fundi with lobular loss of the RPE/choroid that coalesce.
ornithine aminotransferase (OAT)
causing buildup of ornithine which is toxic to the RPE/choroid
In early stages patients have large, geographic peripheral paving-stone like areas of atrophy of the RPE and choriocapillaris which gradually coalesce. Leads to night blindness in first decade of life.
Can diagnose by measuring plasma levels of ornithine
dietary restriction of arginine
can help in some patients
Gyrate Atrophy (image)?
Central Areolar Choroidal Dystrophy (CACD):
A central choroidal dystrophy in younger ppl showing nonspecific mottled depigmentation within the macula that develops over time into a round area of sharply demarcated geographic atrophy. CNV rarely develops.
North Carolina Macular Dystrophy:
A central choroidal dystrophy that begins in infancy as a cluster of peculiar yellow-white lesions in the RPE in the macula. Stabilizes in most pts by teenage years.
North Carolina Macular Dystrophy (image)
What are the three types of retinoschisis?
Congenital x-linked recessive
Secondary forms associated with VMT, optic pits myopic degen
Describe Congenital X-Linked Retinoschisis (include location of schisis and layer of retina and gene mutation)
Characterized by a foveal schisis in the rNFL. No leakage seen on FA. Central vision can initially be good but typically decreases to 20/200 with time.
Caused by defect in gene RS1 which encodes an adhesion protein called retinoschisin.
What is Goldmann-Favre Syndrome?
An AR disorder resulting in night blindness, increase sensitivity to blue light, optically empty vitreous, and ERG changes.
ERG shows no response to low intensity stimuli that normally activate the rods, but there are large, slow responses to high-intensity stimuli
Retina shows no rods and marked increase in S-cones (thought to be due to abnormal cell fate determination)
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