Cornea and External Dz Flashcards

1
Q

what is the mainstay treatment of pinguecula?

A

AT’s

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2
Q

What are indications to remove pinguecula?

A

cosmetically unacceptable, chronic inflammation (can try short course of steroid drops), and if interferes with wearing contact lenses

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3
Q

pterygium. what’s the most common age, gender, population, position on eye (why?)

A

most common in 20-30 men, along the equator, mostly nasally as it’s theorized that the shadow of the nose prevents corneal refraction to temporal side.

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4
Q

what are concretions?

A

conjunctival epithelial inclusion cysts that are filled with keratin debris and mucopolysaccharide and mucin.

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5
Q

what is stocker line?

A

a pigmented line of iron deposition at the invasive border of a pterygium.

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6
Q

Indications for pterygium removal

A

cosmetic
inducing astigmatism, invasion of visual axis/blurry vision
constricting eye movements
Chronic inflammation–can try short course of steroids but not long term

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7
Q

what are the three muscles and respective innervations for eye lids?

A

orbicularis oculi: innervated by CNVII
Levator palpebrae: CN III
Muller muscles by symmathetic nerves

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8
Q

what is avg blinking rate?

A

10-15

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9
Q

What kind of glands are Glands of Moll

A

apocrine sweat glands

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10
Q

What kind of glands are Glands of Zeis

A

modified sebaceous glands

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11
Q

what are the afferent and efferent components of the lacrimal functional unit (LFU)?

A

CN V nociceptors on the ocular surface. to brain stem then efferent to meibomian gland, lacrimal gland, and goblet cells.

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12
Q

what does the caruncle attach to?

A

plica semilunaris

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13
Q

what is the blood supply of bulbar conj?

A

anterior ciliary arteries of the ophthalmic artery

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14
Q

conj associated Lymphoid tissue (CALT) is located where?

A

substantia propria of the conj

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15
Q

cornea contributes to roughtly how many % of the total refractive power?

A

74%

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16
Q

how thick is the corneal epithelial layer? what are the three components?

A

40-50 microns thick. superficial squamous, broad wing cells, columnar basal cells (1 layer)

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17
Q

Basal epithelial cells secrete a basement membrane of 50 nm thick. what kind of collagen is it?

A

Type IV

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18
Q

what is the make up of bowman’s layer?

A

it’s an acellular condensate to the anterior stroma

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19
Q

How thick if bowman’s layer?

A

15 microns

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20
Q

What’s the purpose of bowman’s layer?

A

help to maintain shape of cornea

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21
Q

what are the major collagen and proteoglycan components of corneal stroma?

A

Collagen: type I, V fibrillary collagen interwoven with Type IV
Proteoglycans: decorin and lumican

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22
Q

What % is water in corneal stroma?

A

78%

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23
Q

what are the components of corneal hydration?

A

Na-K ATPase, swelling pressure of cornea due to glycosaminoglycans, and IOP compression, epithelial evaporation

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24
Q

where is the Dua’s layer of cornea?

A

predecemet’s layer

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25
Q

what structure is the “end” or edge of decement’s membrane

A

schwalbe line

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26
Q

vertical and horizontal diameter of cornea in adults?

A

vertical 10-11; horizontal 11-12

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27
Q

which nerve innervates the cornea?

A

long ciliary nerve forms sub epithelial plexus

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28
Q

what technique can be used to visualize endothelial cells

A

specular microscopy

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29
Q

do endothelial cells proliferate?

A

not in vivo. damaged areas are covered by enlargement of surrounding cells.

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30
Q

structure hosting stem cells for corneal epithelium?

A

palisade of Vogt

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31
Q

what is the XYZ hypothesis of corneal health?

A

X is proliferation and stratification at limbus, Y is centripetal migration of epithelial cells centrally, Z is desquamation of old corneal cells. For K to be healthy X +Y >Z

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32
Q

triad of KPs, elevated IOP, and corneal edema indicates what?

A

HSV

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33
Q

cyclosporins are associated with what side effect?

A

disc edema

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34
Q

what side effect is associated with Etanercept and Infliximab

A

optic neuritis

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35
Q

Kpro biggest two down sides?

A

risk of glaucoma and endophthalmitis

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36
Q

severe atopic dermatitis and keratoconjunctivitis can be treated with what oral med LONG term?

A

tacrolimus

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37
Q

chronic cicatricial conjunctivitis signs? differential?

A

fornix fibrosis and shortening.

infection (adeno, trachoma), mucus membrane pemphegoid, trauma/chemical injury, neoplasm

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38
Q

features of vernal conjunctivitis

A

<10 y/o M, giant papilla, horner-trantas dots (limbal follicles)

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39
Q

topiramate is associated with glaucoma. what are the 3 primary treatments?

A

stop topiramate, topical hypotensives, cycloplegia (for often associated mild AC raection)

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40
Q

azithromycin has what side effect?

A

QT prolongation

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41
Q

how to treat gonococcal conjunctivitis? what if there’s corneal involvement?

A

conjunctivitis 1g ceftriaxone IM.

if there’s corneal involvement–admit pt for IV ceftriaxone

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42
Q

what is specular microscopy?

A

confocal microscopy live imaging of endothelium.

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43
Q

whats the normal density of endothelial cells

A

1500-3500 cells/mm2

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44
Q

what is confocal microscopy of the cornea good for?

A

in vivo analysis of the 5 layers. can identify causative organisms of infection, corneal nerve morphology, eval of each layer in dystrophies

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45
Q

what are the 4 main zones of the cornea?

A

central, paracentral, peripheral, limbal

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46
Q

what are the three key components giving cornea its optical properties

A

shape, curvature, power

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47
Q

what is the optical zone of the cornea

A

cornea overlying pupil

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48
Q

what is cornea apex vs cornea vertex?

A

apex is the point of max curvature, vertex is point at intersection of patient’s line of fixation and corneal surface.

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49
Q

whats the average refractive power of the cornea?

A

+43D; +49D from anterior surface -6D of posterior surface

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50
Q

what is keratometry and what does it measure? limitation?

A

measurement of power of central cornea. It calculates radius of curvature in mm.

only measures anterior power of central cornea

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51
Q

what is keratoscopy?

A

projection of placido rings to provide qualitative information of the entire anterior cornea

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52
Q

what is topography vs keratoscopy?

A

topography is digitally projected and represented with colors

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53
Q

bow-tie pattern on topography?

A

astigmatism

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54
Q

crab claw configuration on topography is classic for what? what else is on differential?

A

pellucid marginal degeneration, or keratoconus is also ddx.

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55
Q

what is angle kappa? what is a desired value when calculating IOLs

A

angle between visual axis and pupillary axis (optical axis). want it to be <0.4mm

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56
Q

what should you avoid if angle kappa is >0.4?

A

multifocal IOLs. given line of sight and pupillary axis (optical axis) are far apart

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57
Q

what is corneal tomography vs topography? what technology is tomography based on ?

A

tomography can capture 3D structures of the cornea–anterior and posterior curvature, corneal thickness, AC depth, lens information.

-placido and scanning slit

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58
Q

what filter is used to see fluorescein

A

cobalt blue

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59
Q

what is dye disappearance test?

A

timing duration of fluorescein presence –if prolonged there may be nasal lacrimal system blockage.

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60
Q

punctate staining at 3 and 9 o’clock is classic for what cause

A

due to CL wear

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61
Q

what is the basic secretion test?

A

filter strip 5mm wide 30 mm long, in fornix with anesthetic–to measure basic tear production; <3mm in 5 mins is abnormal

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62
Q

what is schirmer I test–how is it done and what does it test for? what’s abnormal

A

filter strip to fornix withOUT anesthetic to test for basic AND reflex tearing. <5.5mm in 5 mins is Abnl.

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63
Q

what is schirmer I test–how is it done and what does it test for? what’s abnormal

A

filter strip to fornix withOUT anesthetic + nasal mucosa irritation with cotton tip. <15 mm in 5 mins is Abel

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64
Q

comment on specificity and sensitivity of schirmer tests

A

specific but NOT sensitive

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65
Q

whats the normal osmolality of tear

A

306-308

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66
Q

what are some markers of dry eye that we can assay for ?

A

lactoferrin, IgE (for allergic), matrix metalloproteinase 9 (MM9) >40

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67
Q

what is corneal esthesiometry and how is it done?

A

corneal sensation test–> cotton whisp without anesthesia, before IOP check, and tested in all 4 quadrants

There’s also a handheld esthesiometer (cochet-Bonnet)

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68
Q

what is corneal hysteresis

A

the difference in pressure of the cornea bending inward vs bending outwards during air jet applanation

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69
Q

What is corneal resistance factor?

A

correction between corneal hysteresis and thickness.

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70
Q

terrien marginal degeneration classic features?

A

marginal corneal thinning with lipid keratopathy in 4-5th decade of life resulting in against the rule, oblique, or irregular astigmatism.

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71
Q

patient population for floppy eye lid

A

obese with OSA

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72
Q

underlying problem with floppy eyelid

A

lax upper tarsus

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73
Q

recurrent corneal erosions. what are 3 causes?

A

past trauma, past HSV, epithelial dystrophy

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74
Q

treatment options for recurrent erosions?

A

lubricate/hypertoic saline, BCL, epithelial debridement vs anterior stromal puncture, PTK vs PRK

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75
Q

what is distichiasis?

A

two rows of eye lashes (second coming out of meibomian glands

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76
Q

what is mucus fishing syndrome

A

patients fixated on fishing strands of mucus out of eye and eye rubbing leading to more mucus production. +lissamine green and rose bengal inferior K and conj

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77
Q

what is congenital anterior staphyloma?

A

opaque cornea that is partially or completely absent of decemet’s and endothelium and lined with uveal tissue posteriorly to cornea causing iris problems. usually unilateral

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78
Q

what is keratectasia and how is it different than congenital anterior staphyloma?

A

keratectasia is opaque cornea without decemet’s or endothelium. Anterior staphyloma has also a layer of underlying uveal tissue that keratectasia does not.

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79
Q

which IOP lowering drop is associated with reactivation of HSV keratitis?

A

prostaglandin analogues

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80
Q

microcornea dimensions? mode of inheritance? px?

A

<10 mm; autosomal dominant. px generally well with glasses

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81
Q

megalocornea dimensions? mode of inheritance

A

> 13mm; sex linked recessive

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82
Q

megalocornea associated gene?

A

CHRDL1

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83
Q

megalocornea associated abnormalities?

A

diaphany, goniodysgenesis, ectopia lentes, arcus, zonule instability, glaucoma (not congenital glaucoma.

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84
Q

dimensions of cornea plana and sclerocornea?

A

<43 D

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85
Q

Cornea plana is associated with what gene?

A

KERA(12q22)

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86
Q

ocular associations of cornea plana?

A

close angle glaucoma, cataract, coloboma, hyperopia

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87
Q

Finnish ancestry is associated with what disease

A

cornea plana

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88
Q

3 waves of neurocrest cell migration at 6 weeks make up what structures

A

K endothelium, stroma, and iris

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89
Q

mode of inheritance for sclerocornea?

A

sporadic is most common.

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90
Q

manifestation of syphilic intrauterine keratitis?

A

typically 6-12 years old; sudden onset K edema, vascularization formation of salmon patch that regresses to leave ghost vessels

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91
Q

Association of Lowe’s syndrome?

A

oculocerebrorenal. cataract, kidney disease, and corneal keloid

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92
Q

corneal keloids are seen with what conditions?

A

Lowe’s, Rubinstein-Taybi, ACL (acromegaly, cutis vertices gyrata, corneal leucoma syndrome)

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93
Q

forceps birth trauma is associated with what eye findings

A

Horner’s and Vertical Haab’s striae.

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94
Q

What is congenital corneal anesthesia?

A

bilateral sterile ulcers and PAINELESS K opacities as infant or child.

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95
Q

what’s the difference between degeneration and dystrphy

A

dystrophies has inheritance pattern

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96
Q

deceit’s thickness at birth and in elderly?

A

3 microns –>13 microns

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97
Q

what are age related Guttate called?

A

Hassall-Henle bodies; due to loss of endothelial cells.

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98
Q

What are coat’s white ring

A

residual subepi/stromal haze after metal FB. It won’t change after acute inflammation has resolved…so no use for steroid at this point

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99
Q

what is Spheroid degeneration

A

Either primary (degenerative) or secondary (due to inflammation)– translucent subepi, bowman’s or superficial epithelial deposits. Looks oily. Mostly on cornea but can involve conj

100
Q

other names of spheroid degeneration?

A

Laborador keratopathy, Bietti nodular dystrophy, actinic keratopathy, climatic droplet keratopathy

101
Q

causes of BK?

A

inflammation, hereditary, hyperphos, hypercalc, hyperurecemia, mercury vapor exposure

102
Q

How to treat BK?

A

EDTA chelation

103
Q

Ferry line?

A

K iron line from bleb

104
Q

Fleisher Ring?

A

iron line at base of keratoconus

105
Q

Hudson-Stahli line

A

WNL due to aging; at junction of upper 2/3 and lower 1/3 of K

106
Q

Stocker line

A

pterygium

107
Q

LASIK line

A

at margin of ablation zone or more centrally

108
Q

Chrysiasis

A

Gold deposition in cornea; often peripheral

109
Q

Chalcosis

A

copper deposition in K due to copper FB

110
Q

Argyriasis

A

silver deposition in cornea

111
Q

Arcus is due to lipid deposition where?

A

both bowman’s and decemets

112
Q

White Limbal girdle of Vogt?

A

Type I: early BK with clear zone between limbus

Type II: no clear zone between limbus; more punctate in older individuals

113
Q

what is corneal farinata? mode of transmission

A

reflective material in keratinocytes of deep stromal layer giving a dot or common like shape on retroillumination; dominant

114
Q

crocodile shagreen is also called what

A

mosaic degeneration

115
Q

what is senile furrow degeneration? what should you be careful of?

A

apparent or real thinning in the area of senile arcus. Cat surgeons should take caution to prevent wound leak

116
Q

Terrien marginal degeneration- what is it? what age are patients? where does it start? complications of it?

A

peripheral thinning of the corneal without epithelial loss. Age >40. Starts Supranasally and spreads. Complications include astigmatism (usually against the rule and oblique) can cause spontaneous perforation.

117
Q

Terien marginal degeneration in a young person with inflammation… you should think?

A

Fuch’s superficial marginal keratopathy

118
Q

what is lipid keratopathy?

A

deposition of cholesterol, fats, and glycoproteins s/p prolonged K inflammation–> leading to scarring and vascularization.

119
Q

What condition looks like lipid keratopathy?

A

Schnyder corneal dystrophy (autosomal dominant stromal dystrophy), bilat opacification from lipid and cholesterol accumulation.

120
Q

what are Cogan plaques?

A

calcium deposition along scleral collagen fibers anterior to horizontal rectus muscle insertion

121
Q

If vision is decreased when on amiodarone or tamoxifen what should you consider?

A

optic neuropathy… given that verticillate is unlikely to reduce vision

122
Q

What are some meds associated with verticillate? what systemic condition?

A

amiodarone, indomethacin/ibuprofen, chloroquine/hydroxychloroquin, tamoxifen, silver, gold, antacids, gentamicin, clarithromycin

123
Q

Side effect of Cytarabine?

A

inhibition of DNA synthesis can cause painful epithelial cysts and punctate keratopathy– and KEDs

124
Q

what kind of depositions are associated with ciprofloxacin?

A

chalky white crystalline deposition in KEDs

125
Q

What depositions are seen with tetracyclines?

A

adrenocrhome (breakdown of epinephrine) dark spots in K or conj

126
Q

rifabutin can deposit where?

A

endothelium

127
Q

what are the 4 categories of corneal dystrophies?

A
  1. epithelial sub epithelial
  2. Epithelial stroma
  3. stromal
  4. endothelial
128
Q

what pathogens can invade through intact corneal epithelium?

A

neisseria, listeria, corynebacterium

129
Q

conditions associated with limbal stem cell deficiency?

A

chemical burns, SJS, GVHD, aniridia

130
Q

honey comb subepithelial opacities are associated with what?

A

Thiel-Behnke dystrophy

131
Q

Granular dystrophy histologic features?

A

hyaline deposition in stroma– red staining with Masson trichrome

132
Q

zoster immunization decreases likelihood of zoster by how much?

A

50%

133
Q

what are the histological features of mapdot fingerprint/EBMD?

A

sheets of intraepithelial basal lamina material (map)
intral epithelial extension of basal laminar material (fingerprint)
intraepithelial psuedocysts containing cytoplasm (dots)
irregular subepi of fibrogranular material (bleb)

134
Q

other names of map dot finger print (4)

A

endothelial basement membrane dystrophy. cogan microcystic epithelial dystrophy, anterior basement membrane dystrophy

135
Q

Meesman epithelial corneal dystrophy (MECD) clinicalfeatures? mode of transmission?

A

small intraepi vesicles on regroillumination. can have whorled and wedge shaped epithelial pattern, slightly thinned cornea, decreased corneal sensation. Dominant.

136
Q

What is the histological feature of meesman epithelial dystrophy?

A

PAS positiveepitheilal cells with dense fibrogranular material surrouded by tangles of cytoplasmic filaments “peculiar substance”. thickened basement membrane and frequent mytosis

137
Q

What is Stocker-Holt?

A

earlier onset variant of Meeseman

138
Q

What are clinical features of Lisch epithelial corneal dystrophy? Mode of inheritance?

A

band shaped, feathery gray lesions with whorled/flamed pattern. Also has microcysts in epithelium. More isolated to areas of the cornea. Usually is painless. X linked dominant.

139
Q

Hystological features of Lisch epithelial corneal dystrophy?

A

PAS staining in cytoplasmic vacuoles. Ki67 staining of mitotic activity.

140
Q

Gelatinous droplike corneal (epithelial) dystrophy. Other names? mode of inheritance?

A

subepithelial amyloidosis. primary familial amyloidosis. Autosomal rescessive.

141
Q

gelatinous droplike corneal dystrophy. clinical presentation?

A

mull burry like small nodule subepi lesions–decreased vision, photophobia, irritation, tearing, protrusion of lesions, larger “kumquat-like lesions”. Second decade of life.

142
Q

TGFB1 gene is at what locus? responsible for what protein?

A

5q31– kertoepithelin

143
Q

what are the two bowman’s dystrophies? what gene is affected?

A

reis-buckler and thiel behnke. TGFB1 on 5q31 affecting keratoepithelin

144
Q

what are the histological features of Reis-Buckler?

A

sheets of granular deposits that stain red on Masson trichrome. Immunopositive for TGFb1

145
Q

Clinical features of reis buckler dystrophy? age of onset?

A

irregular/coarse geographic opacities in bowman’s layer. onset first few years of life

146
Q

clinical differences between Reis bucker and Thiel Behnke?

A

Reis bucker is more severe but Thiel Behnke recurs more.

147
Q

histological feature of Thiel Behnke?

A

saw tooth fibrocellular material in bowman’s layer. –positive immunostaining for TGFB1

148
Q

clinical feautres of Thiel Behnke?

A

first second decade of life starting as solitary flecks of honeycomb pattern sparing peripheral cornea.

149
Q

What is another name for Waardenburg-Jonker corneal dystrophy?

A

Thiel Behnke

150
Q

Histological feature of lattice corneal dystrophy Type 1 (classic)

A

arborizing amyloid deposits in anterior stroma. focal thinning/absence of Bowman’s layer.
-red with congo red with apple green birefrengence.

151
Q

What are two unrelated conditinons that may look like lattice dystrophy?

A

fungal hyphae; monoclonal gammopathy

152
Q

Granular corneal dystrophy type 1 histological features?

A

granular hyaline deposition with Masson Trichrome. also stains for TGFb1

153
Q

bread crumb like appearance of cornea

A

Granular stromal dystrophy.

154
Q

clinical feautres of granular dystrophy classic type 1?time of onset? px?

A

breadcrumb appearance, vacuoles, glassy splinter appearance. slowly progressive. first couple decades of life onset. px generally good

155
Q

What is Avellino corneal dystrophy. histological features?

A

Granular dystrophy type II– it has both granular dystrophy’s hyaline depositis and amyloid deposits of lattice dystrophy

156
Q

Clinical features of Avellino corneal dystrophy?

A

snow-flake like “icicle” like corneal appeareance with deeper stromal lattice lines.

157
Q

what late stage occurence in keratoconus leads to acute hydrops?

A

decemet breaks

158
Q

conditions associated with keratoconus?

A

atopic disease, Downsyndrome, osteogenesis imperfecta, sleep apnea, MVP, Ehler Danlos, vernal keratoconj, retinitis pigmentosa, floppy eyelids

159
Q

Macular corneal dystrophy involves what layers? age of onset?

A

can involve all the layers. between 3-9 y/o.

160
Q

Clinical features of macular corneal dystrophy?

A

superficial, irregular, white fleck-like opacities with focal gray-white superficial stromal opacities with INTERVENING HAAZE. can involve all layers of cornea. Hypoesthesia can be seen.

161
Q

How to diagnose macular dystrophy aside from clinical feautures?

A

ELISA against keratan sulfate

162
Q

What stains are used for Schnyder corneal dystrophy?

A

oil red O, sudan black. Tissue must be sent FRESH.

163
Q

What lab test should you get in Schnyder corneal dystrophy?

A

fasting lipid panel. dietary modification is recommended but does not lead to better px

164
Q

Congenital stromal corneal dystrophy. Presentation?

A

congenital diffuse bilateral clouding–stromal flake like white opacities. thickened cornea

165
Q

Fleck corneal dystrophy. pathology? is it progressive?

A

excess glycosaminoglycan–stains alcian blue and colloidal iron. Also stains lipids-sudan black and oil red O. It is NOT progressive.

166
Q

microscopy features of Posterior amorphous corneal dystrophy? Is it progressive? Gene association?

A

attenuated endothelial cells. Irregular stroma anterior to decemets. Nonprogressive. KERA gene–thus associated with cornea plana, hyperopia.

167
Q

PreDecemet corneal dystrophy. Associated with what disease?

A

X linked icthyosis

168
Q

PreDecemet corneal dystrophy. microscopy features? clinical features?

A

large keratocytes in posterior stroma. vacuoles and intracytoplasmic inclusions. >30 y/o==fine polymorphic gray opacities.

169
Q

Three stages of Fuch’s endothelial dystrophy?

A

1: guttate that spreads from central out
2: endothelial decompensation and stromal edema
3: bullous keratopathy

170
Q

Treatment options for Fuch’s?

A

mild disease: Murad (NaCl), BCL, IOP lowering. Anterior stromal puncture, amniotic membrane.
Severe: PK vs endothelial transplants.
Novel: intracameral Rho Kinase (ROCK) inhibitor to stimulate endothelial proliferation

171
Q

Posterior polymorphous dystrophy is also called what?

A

Schlichtung dystrophy.

172
Q

Posterior polymorphous dystrophy. clinical presentations?

A

endothelial vesicles, geographic gray lesions, endothelial bands with scalloped edges. Stromal edema, corectopia, iridocorneal adhesions.

173
Q

Posterior polymorphous dystrophy. pathological features?

A

multiple layers of endothelial cells that behave like epithelial cells–have microvilli, keratin, rapid growth, desmosomes.

174
Q

Congenital hereditary endothelial dystrophy (CHED). clinical features? path features?

A

clinical: blurry vision, nystagmus withOUT tearing/photophobia. diffuse ground glass haze.
Path: thickened decemets and sparse atrophic corneal endothelial cells.

175
Q

what condition is associated with increased inferior to superior power ratio of the cornea?

A

keratoconus.

176
Q

best imaging options for keratoconus?

A

Scheimflug imaging, anterior OCT. –Showing decentered bow tie

177
Q

keratoectasia is associated with what surgery?

A

LASIK and PRK

178
Q

is hydrops an indication for emergency PK?

A

no

179
Q

Pellucid marginal degeneration (PMD) –laterality and hereditary pattern? what is it?

A

bilateral, nonhereditary. non inflammatory.

Peripheral thinning

180
Q

crab claw pattern of cornea thinning

A

pellucid marginal degeneration.

181
Q

Px of pellucid marginal degeneration vs keratoconus?

A

PMD is worse because any transplant will be closer to the limbus and more prone to rejection

182
Q

Keratoglobus. laterality, age of onset?

A

bilateral, noninflammatory, and typically present at birth

183
Q

Keratoglobus is associated with what physical exam finding and condition?

A

blue sclera. Ehler Danlos

184
Q

where is it think for keratoglobus?

A

paracentral inferior-decemetc, bowmans, and stromal thinning.

185
Q

keartoglobus treatment?

A

CL, PK, tectonic lamellar keratoplasty followed by PK.

186
Q

Kayser Fleischer ring found in what diseases?

A

Wilson’s primary biliary cirrhosis, chronic hepatitis, exogenous chalcosis.

187
Q

of all the mucopolysaccharidosis conditions… all of them are what inheritance pattern? except for 1 which is what? and how is it transmitted?

A

all are autosomal recessive except for Hunter’s which is X linked recessive.

188
Q

what are the three varieties of Mucopolysaccharidosis I disorders?

A

Hurler, Scheie, Hurler-Scheie.

189
Q

Hurler syndrome… what is the missing enzyme

A

a-L-iduronidase.

190
Q

ocular features of Hurler/ Scheie syndrome?

A

corneal opacity, optic atrophy, retinopathy.

191
Q

what’s the difference between Hurler and Scheie?

A

they are the same disorder except for Hurler is severe with additional intellectual impairment and short lifespan vs Scheie is later onset (age 5-15) and have normal intelligence and life span.
Hurler can have pigmentary retinopathy, glaucoma, optic nerve swelling/atrophy, hypertelorism

192
Q

How to diagnose Hurler/Scheie?

A

leukocyte/ plasma enzyme study. urine analysis, conj biopsy (rarely used)

193
Q

what is the accumulated material in MPS I (hurler’s/ scheie)

A

dermatan and heparan sulfate

194
Q

what is MPS II disorder?

A

Hunter’s

195
Q

Hunter’s syndrome enzyme? accumulate?

A

Iduronidase 2 sulfatase, dermatan and heparan sulfate

196
Q

Hunter’s features?

A

exophthalmos, hyperteloris, optic nerve swelling/atrophy, retinopathy

197
Q

What is Sanfilippo syndrome?

A

MPS III associated with pigmentary retinopathy, abnormal ERG.

198
Q

Morquio syndrome–clinical features?

A

shallow orbits, retinopathy, mild K opacity in 10% of patients >10 years old

199
Q

Morquio syndrome–what is the pathophys?

A

MPS IV–missing galactose 6 sulfatase (A) and b-galatosidase (B) accumulate of keratin sulfate (A) and chondroitin sulfate (B).

200
Q

Maroteaux-Lamy syndrome–pathophys?

A

MPS VI. missing N acetylgalactosamine-4 sulfatase; accumulate dermatan sulfate.

201
Q

Maroteau-Lamy clinical features?

A

severe K clouding within 1 year of life. K edema. Also narrow angle glaucoma and optic nerve atrophy

202
Q

Sly syndrome -clinical features?

A

corneal clouding

203
Q

Sly syndrome- pathophys?

A

MPS VII. beta glucuronidase deficiency. dermatan sulfate, keratan sulfate, chondroitin sulfate accumulation.

204
Q

Natowicz syndrome–pathophys/ clinical features

A

MPS IX. hyaluronidase 1 missing. accumulation of chondroitin sulfate. no corneal clouding

205
Q

how is px of PK for patients with K clouding due to mucopolysaccharidosis

A

guarded as can accumulate in graft

206
Q

How many sphingolipidosis conditions are there…what are they

A

4.

Fabry’s, Tay Sachs, multiple sulfatase deficiency, generalized gangliosiosis

207
Q

What are the organisms that can invade intact cornea

A

Shigella, H flu biotype III, Neissieria (both gonorrhea and meningitidis, Listeria, fusarium, and corynebacterium

208
Q

which bacteria have exotoxin that can induce corneal cell necrosis

A

pseudomonas, strep, and staph

209
Q

sphingolipidosis –corneal finding. other ocular findings

A

verticillata in epithelial layer. periorbital edema 1/4th of cases, posterior spokes like cataracts 50%, conj aneurysms (60%), papilledema, retinal swelling, optic atrophy, retinal vascular dilation

210
Q

Fabry’s extraocular findings

A

renal failure, peripheral neuropathy, angiokeratomas,

211
Q

multiple sulfatase deficiency extra ocular findings

A

metachromic leukodystrophy, progressive psychomotor decline. usually die within 1 year.

212
Q

unilateral arcus or asymmetric arcus is likely due to what

A

carotid atherosclerosis

213
Q

sabourad agar cultures what

A

fungi

214
Q

Lowenstein jensen agar cultures what

A

mycobacterium

215
Q

thioglycolate agar cultures what

A

aerobes and anaerobes

216
Q

name the 3 lysosomal storage diseases?

A

Fucosidosis, mannosidosis, Goldberg syndrome.

217
Q

What is the function of LCAT (non ophthalmology)

A

LCAT transports excess cholesterol from peripheral tissue to liver

218
Q

What are LCAT deficiency associations–systemic? ocular?

A

systemic: renal insufficiency, atheroscolerosis.
Ocular: arcus, “nebular corneal clouding

219
Q

What is fish eye disease?

A

variant of LCAT deficiency. –corneal clouding, arcus

220
Q

which chromosome abnormality is associated with fish eye disease and LCAT deficiency.

A

16q22.1

221
Q

Tangier disease pathophys? genetic locus? exam findings?

A

missing serum high density alpha lipoproteins. disease maps to 9q22. large orange tonsils, spleen and LN

222
Q

Crystalline keratopathy occurs in immunocompromised corneas. what’s that most likely causative agent?

A

viridans strep–branching colonies within corneal stroma

223
Q

what is a complication of congenital cataract surgery that could present at any point in the patient’s life?

A

glaucoma–especially with young patients, 3 months post op, small K diameters

224
Q

TIGR/MYOC gene is associated with what?

A

junvenile open angle glaucoma

225
Q

OPTN gene is associated with what?

A

normotension glaucoma

226
Q

CYP1B1 gene is associated what what

A

congenital glaucoma

227
Q

LOX1 is associated what what

A

pseudoexfoliation

228
Q

treatment regimen for burn injuries

A

ppx abx, cycloplegic, steroid– debridement if needed

229
Q

transient corneal edema due to cold exposure can occur in which conditions?

A

Raynaud’s and CN V dysfunction

230
Q

time course of UV radiation exposure?

A

Snow vs. welding vs. sun lamp. asymptomatic initially then pain few hours later as epithelium sloughs off. Usually self limited. Can use ointment and cycloplegia

231
Q

cystinosis eye finding

A

polychromatic cysteine crystals in conj, cornea, iris

232
Q

eye treatment for cystinosis?

A

cysteamine eye drop to convert cystine to a disulfide resembling lysine

233
Q

tyrosinemia corneal findings? derm findings?

A

cornea will have pseudodendritic lesions and corneal erosions; derm is hyperkeratotic lesions of the palm/soles

234
Q

treating tyrosinemia?

A

dietary restriction of tyrosine and phenylalanine

235
Q

ocular manifestation of alkaptonuria?

A

pigment deposition in bowman’s layer and epithelium. ochronosis due to excess homogentisic acid–treat with vitamin C to decrease arthritis

236
Q

Meretoja syndrome/Gelsolin type lattice corneal dystrophy

A

amyloid deposits, dermatochalasis, lagophthalmos, pendulous ears, lattice lines

237
Q

porphyria eye findings

A

necrotizing scleritis, corneal thinning

238
Q

Ehlers Danlos type VI. eye findings. systemic findings

A

easy ruptured/brittle cornea, blue sclera, keratoconus, keratoglobus. scoliosis and moderately joint/skin distensibility

239
Q

locus of fibrillar gene

A

15q21

240
Q

osteogenesis imperfecta. gene associated? type I vs Types 2-4? ocular findings?

A

COLIA1, COLIA2; Type I blue sclera fades with time; other findings include optic nerve damage due to fx, keratoconus, megalocornea

241
Q

vitamin A deficiency causes what?

A

night blindness(decreased rhodopsin), xerophthalmia (loss of goblet cells)–bitot spots

242
Q

what patients get vitamin A deficiency?

A

babies that are malnourished with stressors such as diarrhea and measles.
Adults with chronic alcoholism, lipid malabsorption

243
Q

px of vitamin A deficiency

A

50% mortality rate untreated

244
Q

ocular signs of monoclonal gamopathies (MM, waldenstrom, cryoglobulinemia)

A

crystalline deposition in cornea, copper in cornea, slugging of blood flow, pas plant proteinaceous cysts, infiltrate of sclera, orbital bony invasion with proptosis

245
Q

what are vertical lines in decemet’s and deeps stroma called in DM?

A

Waite-Beetham lines

246
Q

differences between ichthyosis vulgaris and x linked ichthyosis

A

x linked up to 50 % may have corneal opacities vs ichthyosis vulgaris usually does not. Both have eye lid scales, iccatricial ectropion

247
Q

acute hemorrhagic conjunctivitis are usually caused by what?

A

entero virus or coxackie virus