B14-2 Other Retinal Vascular Diseases Flashcards
Which form of Sick Cell is most severe systemically?
HbSS, or homozygous for mutant hemoglobin “S”
Which form of sickle cell is most likely to develop severe retinopathy?
HbSC, or “Sickle Cell C disease”
Name the 3 types of Sickle Cell that retinopathy can occur in
- Sicke cell disease (HbSS)
- Sickle cell C Disease (HbSC)
- Sickle cell thalassemia disease
Is retinopathy common in people with sickle cell trait (HbSA)?
Rare
What medications should be avoided in sickle cell patients? Why?
- Carbonic Anhydrase inhitors (CAI)
- they can promote sickling and vascular occlusion
Common anterior segment findings with Sickle Cell?
- Conjunctiva: Dark red corkscrew or comma-shaped vessels, most often on the inferior bubar conj and fornix
- Iris: patches of ischemic atrophy
- Anterior Chamber: hyphema (may be spontaneous or follow minor trauma)
NPSR (non-proliferative sickle-cell retinopathy) changes?
- Tortuos veins are very common
- artery & arteriole occlusions are all possible (BRAO, CRAO, Macular vessles)
- Salmon-patch hemorrhages, which represent areas of intraretinal hemorrhage
- Black “sunburst” lesions, which are localized regions of RPE hypertrophy, hyperplasia, and pigment migration in the peripheral retina (usually following a salmon-patch hemorrhage)
- Occlusion of parafoveal capillaries and arterioles (one cause of decreased VA)
- Optic disc “sign of sickling”, which are dark red blots on the disc surface due to small vessel occlusion
- Peripheral areas of whitening or darkening
- Angioid streaks (in up to 6% of pts)
PSR (proliferative sickle cell retinopathy) occurs most commonly with what form of sickle cell? At what rate?
- Sickle cell hemoglobin C (HbSC)
- 33%
List the 5 stages of PSR
- Stage 1: Peripheral arteriolar occlusions
- Stage 2: Peripheral arteriovenular anastomoses
- Stage 3: Pre-retinal sea fan neovascularization
- Stage 4: Vitreous Hemorrhage
- Stage 5: Tractional Retinal Detachment (TRD)
Hallmark feature of PSR (proliferative sickle cell retinopathy)?
Sea Fan Retinopathy
Describe the different severities of Alpha Thalassemia and note which can cause retinopathy
Alpha-Thalassemia Silent Carrier: 1 deleted, 3 normal
Do not have the disease, can pass on to children
Alpha-Thalassemia Trait/Minor: 2 deleted, 2 normal
Retinopathy possible
Alpha-Thalassemia Intermedia (aka Hemoglobin H disease): 3 deleted, 1 normal
Where retinopathy is typically observed
Alpha-Thalassemia Major (Aka Hyrops Fetalis): All 4 deleted
Incompatible with life
Describe the different severeties of Beta-Thalassemia. Which can cause retinopathy?
Beta-Thalassemia Trait/Minor: 1 mutation, 1 normal
Retinopathy possible
Beta-Thalassemia Intermedia: homozygous for 2 less-severe mutations or 1 severe & 1 less severe
Retinopathy may be observed
Beta-Thalassemia Major: absence of beta chains or severe reduction in functional beta globulins
Retinopathy observed
Early clinical manifestations of Vasculitis?
Generally non-specific
Perivascular Infiltrates and sheathing of retinal vessels
What is “Eales Disease”? Who does it usually affect?
Occlusive vasculitis typically affecting males of middle eastern or indian decent in their 2nd decade of life (11-59 yoa)
Clinical manifestations of Eales Disease
- usually involves the mid-peripheral or peripheral retina of both eyes (80% or more)
- often results in preretinal neovascularization with vitreous hemorrhage
TB sensitivity is often associated with what disease?
Eales Disease
What is Susac Syndrome? Who does it typially affect?
- Microangiopathy of the brain, retina, and cochlea typically diagnosed in women of their third decade of life
What is the triad of Susac Disease?
- Multiple BRAO’s
- Hearing loss
- Encephalopathy
What is “IRVAN”? What is it characterized by?
- Idiopathic retinal vasculitis, aneurysms, and neuroretinitis
- characterized by retinal vasculitis, multiple microaneurysms, neuroretinitis, and peripheral capillary nonperfusion
List the 3 major criteria for Dx of IRVAN
- Vasculitis
- Macroaneurysms
- Neuroretinitis
List the 3 minor criteria for Dx of IRVAN
- Peripheral capillary non-perfusion
- Retinal NV
- Macular exudates
Cystoid Macular Edema (CME) is characterized by what?
Intraretinal edema contained in honeycomb-like cystoid spaces
CME classically forms a ______________ pattern. Why?
- “”Flower-petal” pattern due to the radial foveal arrangement of both the glia and Henle Inner Fibers
Severe cases of CME can be associated with what other findings?
Vitritis and Optic Nerve head swelling
What causes CME? What conditions may this occur in?
- Abnormal permeability of the perifoveal retinal capillaries
- Diabetic Retinopathy, CRVO, BRVO, uveitis, Retinitis Pigmentosa, and many others
What is “Irvine-Gass Syndrome”? When is it “clinically relevant” & how common is it?
- Aka Pseudophakic CME
- CME secondary to Cataract Extraction
- Reduced VA in the presence of Petalloid CME on FA
- Only 1-2% in the absence of additional risk factors; most cases are mild and asymptomatic
When does CME incidence peak post-op?
- 6-10 weeks
Sponatenous resolution occurs in what percentage of uncomplicated Irvine-Gass syndrome cases?
- 95%
What is the characteristic finding of Coats Disease?
- vascular dilations (retinal telangiectasias)
How does Coats disease affect the retina?
The abnormal vessels become compromised and leak serum and other blood components into and under the retina
Who is most likely to have Coats Disease? Unilateral or bilateral?
- Males (85%), often Dx in childhood
- Usually unilateral
What complication is often associated with the characteristic retinal telangiectasias associated with Coats Disease?
Exudative Retinal Detachment
There is a very mild form of Coats disease called what?
Leber Miliary Aneurysms
What is the main clinical feature of “FEVR”?
- Avascular Peripheral Retina
Other than the avascular peripheral retina, what other clinical findings can be associated with FEVR?
- Dragged Retinal Vessels
- Retinal (falciform folds)
- Neo (pre-retinal specifically)
Differentials for FEVR?
- Retinopathy of Prematurity (ROP)
- Norrie Disease
- Coats Disease
- Incontinentia Pigmenti
List the natural progression of FEVR
- Starts with avascular periphery or anomalous intraretinal vascularization
- Next pre-retinal NV starts to form
Finally, start to have retinal detachment issues (extramacular initially followed by Macular involved and finally total retinal detachment)
Incontinentia Pigmenti, what is it? Who typically has it? Characteristic findings?
- Rare x-linked disease presenting at birth or early childhood
- Typically lethal unless patients have an extra X-chromosome, which results in Kleinfelter’s syndrom
- characteristic skin lesions first presenting as vesiculobullous then progressing to pigmentary whorls
Ocular issues associated with Incontinentia Pigmenti?
Uveitis Cataracts Strabismus Conj pigment Cortical blindeness Optic atrophy Nystagmus
What is “MacTel”? What are the 3 types? Which is most common?
- Idiopathic Macular Telangiectasia
- Type 1: Unilateral Parafoveal Telangiectasia (congenital or acquired)
- considered a macular variant of Coats disease
- Type 2: Bilateral, temporal, Parafoveal Telangiectasia - MOST COMMON
- Type 3: Type 2 + Retinal Capillary Obliteration
Name the 4 “Phakomatoses” syndromes
- Sturge-Weber Syndrome
- Von Hippel-Lindau Syndrome
- Wyburn-Mason Syndrome
- Cavernous Hemangioma
Explain Sturge-Weber
- capillary malformation (port wine stain), ipsilateral leptomeningeal angioma, and glaucoma secondary to elevated episcleral venous pressure
Explain Von-Lindau Syndrome
- caused by a tumor supressor gene mutation
- retinal/central nervous system hemangioblastomas (capillary hemangioma) and visceral manifestations
Explain Wyburn-Mason Syndrome
- racemose hemangioma (lesion composed of blood vessels without an intervening capillary bed)
- 3 groups of severity:
- With plexus
- Without plexus
- Large vessel without plexus
Explain a vacernous hemangioma
- formation of grape-like clusters
Radiation Retinopathy
- usually observed around 18 months after treatment with external beam radiation and earlier with brachytherapy
- clinically, it presents very similarly to Diabetic Retinopathy (and other vascular diseases) so a good Hx is important
Valsalva Retinopathy
- when a sudden rise in intrathoracic or intraabdominal pressure (like while coughing, vomiting, lifting, or straining) causes an increase in intraocular venous pressure, resulting in rupturing of small superficial capillaries in the macula
- hemorrhage typically occurs under the ILM
Purtscher Retinopathy & Purtscher-Like Retinopathy
- Acute compression injuries to the thorax or head causes a retinopathy that results in vision loss
- Purtscher is similar but without the trauma
- CWS & “Purtscher flecken”, which is intraretinal whitening with a clear zone on either side of retinal vessels
Lipemia Retinalis
- Bilateral manifestation of hypertriglyceridemia that affects retinal vessels
- Triglycerides are usually over 1000mg/dl
Explain Leukemia-associated retinopathy
- more commonly seen in the the acute forms than the chronic forms
- retinal hemorrhages
- CWS
- roth spots
- peripheral retinal neo in (chronic myeloid leukemia)
Anemia & retinopathy
- Retinal venous tortuosity is reated to the severity of anemia (but can occur in isolation)
- Dot, blot, and flame hemmorrhages, as well as CWS and Roth spots are alll more common with co-existing thrombocytopenia
- Optic Neuropathy may occur in pernicious anemia
Retinopathy associated with Lymphoma
- typically more related to lymph mass of the retina/choroid or vitrous
- often intraocular inflammation
- a “masuerade syndrome”
Hyperviscosity Syndrome
- due to polycythemia (increased # of RBC’s) or abnormal plasma proteins
- ocular features include retinal hemorrhages, venous changes, RVO’s and conjunctival telangiectasia
- often as a result of blood cancers, anemias, clotting diseases or autoimmune conditions like:
- Factor V leiden
- Protein S/C deficiencies
- Anti-phospholipid syndrome
- Lupus
Terson Syndrome
- a vitreous and sub-ILM or subhyaloid hemorrhage that is caused by an abrupt intracranial hemorrhage
Pigmented Paravenous Retinochoroidal Atrophy (PPRA)
- an area of pigmentary atrophy that may course along or be adjacent to retinal venules
- DDx includes old trauma of some sort (old hemorrhage, infection, inflammatory process)
