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Retina Pt 2 Ch 8-11
Terms in this set (114)
How can Giant Cell Arteritis affect choroidal blood flow?
Can cause occlusion of short posterior ciliary arteries producing broad triangular areas of nonperfusion along any meridian on ICG.
Can also cause concurrent CRAO
What is a Choroidal Hemangioma?
Type 1: A unilateral, reddish, orange, well-circumscribed tumor showing a characteristic "washed out" pattern on ICG.
Type 2: A diffuse, reddish choroidal thickening "tomato-catsup" fundus occuring in children with Sturge-Weber syndrome.
Can cause CME, neurosensory detachment, or formation of an epichoroidal membrane with calcification and ossification
What is the Uveal Effusion Syndrome?
Decreased net movement of water across the vitreous cavity and posterior eye wall by reduced transscleral aqueous outflow due to abnormal scleral thickness or composition
Etiologies include nanophthalmos, scleritis, and idiopathic.
Included in differential of young patient with hyperopia diagnosed with CSC
Describe the FA for Uveal Effusion Syndrome:
A leopard spot pattern of hypofluoresence without focal leakage
Uveal Effusion Syndrome FA (image)
A leopard spot pattern of hypofluoresence without focal leakage
What is Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP)
A paraneoplastic syndrome, Causes diffuse thickening of the choroid, reddish/brown choroidal discoloration, serous RD, and cataracts.
What malignancies are commonly associated with BDUMP?
Ovary, uterus, lung more commonly but also colon, pancreas, gallbladder, and esophagus (GI stuff)
Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP) (image)
What is 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 hypogluorescence with late hyperfluorescence staining
What must pts with APMPEE be followed closely initially?
To differentiate from Serpiginous Choroidopathy which requires early treatment
What is Serpiginous Choroidopathy?
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
What is 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
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
How is MEWDS treated?
What is Idiopathic Enlargement of the Blind Spot Syndrome (IEBSS)?
A subset of MEWDS in young females w/o retinal or fundus lesions. Pts have enlarged blind spot only and not Rx necessary. May represent resolved MEWDS lesions
What is Birdshot Retinochoroidopathy?
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?
What is 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
What is Acute Zonal Outer Retinopathy (AZOOR)?
F>M, bilateral, no ac rxn, +/- vitritis
A suspected WDS occuring in young females causing damage to broad zones in the outer retina in 1 or both eyes. Fundus can be normal or have mild vitritis. VFs can show scotomas. Prognosis good
No treatment proven
What is Acute Macular Neuroretinopathy?
A WDS. 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
Acute Idiopathic Maculopathy
Presents with sudden central vision loss in young ppl after a flulike illness. Usually unilateral. Main finding is exudative neurosensory macular detachment. Usually resolves over few weeks
Acute Retinal Pigment Epitheliitis
Young adults typically present with rapid central vision loss and show clusters of dark, round spots surrounded by depigmented haloes at the level of the RPE. Most have complete recovery
Solitary Idiopathic Choroiditis
A localized inflammatory condition of the choroid that can simulate an amelanotic intraocular neoplasm (distinct defined lesion at level of choroid).
Describe Behcet's Disease
Recurrent systemic disease with triad of aphthous ulcers, genital ulcers, and anterior iritis with hypopyon.
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?
Describe Lupus Retinitis and Choroiditis:
Retinal disease occurs in approximately 3-10% with SLE and can range from CWS to occlusive disease
Lupus choroidopathy is less common and presents as multifocal serous elevations of the neurosensory retina and RPE
Treat with observation, immunomodulation, plasmapheresis, or PRP to areas of ischemia
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
Prodromal Phase: flulike illness, meningismus, dysacusis
Uveitis Phase: 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
Convalescent Phase: Uveitis subsides but depigmentation of skin/uvea can occur. "Sunset glow" fundus, Dalen-Fuchs nodules
Final Phase: chronic and recurrent inflammation leading to cataract, CNV, glaucoma
What should prompt suspicion for intraocular lymphoma?
Large, solid, confluent RPE detachments which can spontaneously involute
Any elderly with chronic, nonresponsive uveitis
What is the most common ocular infection in AIDS
Describe CMV Retinitis:
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?
What is 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.
What is 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 best treatment for endogenous yeast enopthalmitits?
Candida: pars plana vitrectomy + cultures + fluconazole/voriconazole.
Aspergillus: amphotercin B/voriconazole
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
How do you treat cat scratch disease?
Doxy, Cipro. or Erythromycin
No rx proven however
What are symptoms/signs of Congenital Toxoplasmosis?
Hydrocephalus, seizures, LAD, hepatosplenomegaly, rash, fever, and chorioretinitis (most common)
How can you distinguish acquired vs congenital toxoplasmosis?
No scar adjacent to the site of active inflammation or disease occurs in previously documented normal fundus
How is toxoplasmosis treated?
Pyramethamine/Sulfadiazine + folic acid for 4-6 weeks.
Consider prednisone (0.5mg-1.0mg/kg) on day 3 to reduce inflammation
HIV patients require long term maintenance treatment
What is considered pathognomonic for toxoplasmosis chorioretinitis?
A unifocal area of acute-onset inflammation contiguous with a previous chorioretinal scar
Describe ocular toxocariasis?
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.
What is 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 causes DUSN?
Toxocara canis or Baylisascaris procyonis or Ancylostoma caninum
Describe congenital/acquired color vision defects in terms of stationary/progressive
Congenital are usually stationary, Acquired may be progressive
What is trichromatism?
Normal color vision
Can match any colored light by varying a mixture of 3 different colored lights
What is dichromacy?
Only needed two primary colors to make a color, thus lacking 1 color photoeceptor
What is protanopia?
1% of males, XR
Lack of L-cones (long wavelength) thus lack of red.
What is deuteranopia?
1% of males, XR
Lack of M-cone (medium wavelength), thus lack of green.
What is tritanopia?
Extremely rare (0.001% of population), Autosomal dominant
Lack of S-cone (short wavelength), thus lack of blue.
What is anomalous trichromatism?
5-6% of males
Most common color deficiency. Persons still require 3 colors to match a given color but one cone photopigment has abnormal absorption thus they use different proportions of the three colors.
What is deuteranomalous trichromatism?
5% of males, XR
The M-cone has abnormal absorption closer to the L-Cone.
What is protanomalous trichromatism?
1% of males, XR
The L-cone has abnormal absorption closer to the M-Cone.
What is Tritanomalous trichromatism?
Debated if this even exits and is more rare than tritanopia
What is monochromatism/achromatopsia?
The inability to distinguish colors. Person can match a given color solely by intensity adjustments.
Complete (Rod Monochromatism - lacks cones)
Incomplete (lack L, M cones): essentially blue-cone monochromatism
What is Rod Monochromatism?
Patients have no cone function at all and see the world in shades of gray. Vision may range from 20/60 to 20/200, nystagmus is often present in childhood and improves with age.
The light pigment of the fundi may be confused with ocular albinism however the ERG will show absent cone responses in rod monochromatism and normal cone responses in ocular albinism
What is Blue-cone monochromatism?
An x-linked recessive disorder with lack of red and green cones. Blue cones are so few in number in essence visual function mimics rod monochromatism. Caused by loss of both red and green pigment genes on the x-chromosome.
What is a good way to distinguish between Rod Monochromatism and Ocular Albinism
ERG which will show normal cone response in ocular albinism and absent cone response in rod monochromatism.
Both will have lightly pigmented fundi and poor Va
Describe Congenital Stationary Night Blindness?
Charazterized by lifelong stable abnormality of scotopic vision (i.e. vision when rods are functioning)
X-linked (most common), AD, AR
Thought to be due to loss of retinal "on responses". Normally cones produce a b-wave to both onset and offset of light. Rods only have an on-response. Thus loss of on-response allows cones to function but not rods.
What is the negative ERG
Most common ERG pattern in Congenital Stationary Night Blindness
Large A-wave and absent/small B-wave
What is the defect in Congenital Stationary Night Blindness (CSNB)?
Communication failure btw photoreceptor and bipolar cell. Rhodopsin regen is normal on fundus reflectometery. In contrast from RP which shows loss of photoreceptor cells
CSNB Dark-Adaptometry curve (image)
Note that there is no rod adaptation
What is Fundus Albipunctatus?
A disorder of rhodopsin regeneration thus taking several hours after intense light exposure. Causes night blindness for initial few hours in dark. ERG normal after long dark adaptation
Fundus shows striking array of yellow-white dots in posterior pole (except fovea) that radiate outward
What is retinitis pigmentosa albescens?
A variant of RP with yellow-white dots on the fundus similar to Fundus Albipunctatus but with narrowed vessels and severely depressed ERG without recovery on dark adaptation
Must differentiate from Fundus Albupunctatus with ERG
What is Oguchi Disease?
Characterized by very slow dark adaptation but rhodopsin regen is normal. Defect is in retinal circuitry.
What is the Mizuo-Nakamura Phenomenon?
Oguchi disease is characterized by a golden-brown fundus with a yellow-gray metallic sheen in the light-adapted state. After complete dark adaptation (3 to 12 hours), the fundus appears normal, and this disappearance of the shiny, yellow, fundus reflex is called the Mizuo-Nakamura phenomenon.
What is enhanced S-cone syndrome?
A rare recessive form of CSNB in which the photopic ERG responses resemble the scotopic ones. Patients lack rod function and have only weak red and green-cone function.
Fundus exam can show a ring of RPE degen around vascular arcades
Describe cone-rod RP degenerations and Primary cone degenerations/non-RP cone-rod dystrophies on kinetic visual field testing:
In cone-rod RP degenerations isopters contract over time.
Primary cone degenerations/non-RP cone-rod dystrophies maintain full isopters but centra scotoma are common
What are the two main groups of pigmentary retinopathies?
Primary RP which is confined to the eyes
Secondary Pigmentary Retinopathy which has systemic involvement
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
What is Sectorial Retinitis Pigmentosa?
A subset of RP in which the disease is limited to one or two quadrants of each eye and usually does not enlarge
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 oculodigital reflex
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
Describe the ERG in Lerber's Congenital Amaurosis?
Minimal to undetectable.
What is a good way to treat CME in RP?
With CAIs such as acetazolamide PO
Describe Cone Dystrophies (signs, ERG):
Characterized by progressive loss of visual acuity and color discrimination, often accompanied by hemeralopia (day blindness) and photophobia.
Fundus findings include bulls-eye macular atrophy. May have temporal optic atrophy and tapetal retinal reflexes (glistening greenish or golden sheen)
ERG shows an abnormal or nonrecordable photopic cone response and a normal or near-normal rod-isolated ERG response
Describe Stargardt Disease (fundus flavimaculatus)?
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
Mutation of ABCA4 gene 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?
What is the mutation in Stargardt Disease?
Mutation of ABCA4 gene which encodes an ATP-binding cassette (ABC) transporter protein in rod outer segments, leading to buildup of lipofuscin in the RPE (and thus causing dark choroid on FA)
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?
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 inheritance pattern for Best Disease and what chromosome is it located on?
Chromosome 11 (raise both index fingers into air if you are the "best")
What is the 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.
What is 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
What is 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
Describe ERG and EOG for Pattern Dystrophies?
Usually normal except for mildly reduced EOG c/w RPE dysfunction
What is Sorsby Macular Dystrophy?
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
What is the inheritance pattern and gene mutation in Sorsby Macular Dystrophy?
Mutation of gene TIMP3 which encodes for a tissue inhibitor of metalloproteinase.
List the different Choroid Degenerations:
Central areolar choroidal dystrophy
North Caroline macular dystrophy
What is Choroideremia?
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.
What is the gene defect in Choroideremia?
CHM gene which encodes for geranylgeranyl transferase Rab escort protein
Describe Gyrate Atrophy:
A diffuse choroidal dystrophy causing hyperpigmented fundi with lobular loss of the RPE/choroid that coalesce.
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
Rx with dietary restriction of arginine. Vitamin B6 can help in some patients
Gyrate Atrophy (image)?
What is the mutation in Gyrate Atrophy?
Mutation in ornithine aminotransferase (OAT) causing buildup of ornithine which is toxic to the RPE/choroid
How is Gyrate Atrophy Treated?
With restricted arginine diet and vitamin B6
What is 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.
What is 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?
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.
Pigmentary deposits can develop and be confused with RP in advanced cases.
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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