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ChM > Cornea and External Dz > Flashcards

Cornea and External Dz Flashcards

1
Q

what is the mainstay treatment of pinguecula?

A

Lubrication with artificial tears and ointment can help with ocular surface irritation.

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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

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100
Q

other names of spheroid degeneration?

A

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

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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

248
Q

Crystalline deposits occurs with:

A

myloidosis as in multiple myeloma;
cystinosis;
treatment with gold;
uric acid from uraemia

249
Q

Pterygium:

A

> fibrovascular overgrowth of the bulbar conjunctiva
the stroma shows basophilic degeneration (elastotic) of collagen
the epithelium is often thin but may show hyperplasia or dysplasia
it is not regarded as precancerous

250
Q

Keratoconjunctivitis sicca (dry eyes)

A

> causes dysplasia of the epithelium which may eventually become keratinise
the goblet cells may increase due to chronic irritation from dry eyes
in Sjogren’s syndrome, there is lymphocytic infiltration of the lacrimal and accessory glands

251
Q

Merkel cell carcinoma:

A

> an aggressive primary tumour of the skin, arising from papillary dermis
usually presents as a firm non-tender solitary skin nodule on the face and neck
early metastasis through the lymphatic channels
contains APUD (amine precursor and uptake decarboxylation) cells

ChM (59 decks)

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