Cornea Dystrophy (Cale)

Question 1

epithelium anatomy and phsiology

Answer 1

genesis, proliferation/migration, healing, cell junctions, relationship to tear film

Question 2

stroma anatomy and physiology

Answer 2

generation, transparency, hydrophilic

Question 3

endothelium anatomy and physiology

Answer 3

energy, ion pumps

Question 4

dystrophy

Answer 4

developmental and hereditary corneal abnormalities, typically symmetric, resulting from faulty metabolism and/ or structure, usually unrelated to other systemic or local diseases

Question 5

standard clinical characteristics of corneal dystrophies

Answer 5

1. autosomal- dominant 2. usual onset of corneal findings by age 20 3. bilateral 4. slowly progressive changes 5. no systemic disease association 6. no primary ocular disease history 7. centrally located 8.. primary involvement of single corneal layer

Question 6

corneal dystrophies are autosomal dominant

Answer 6

50% or more of family will show similar findings. equal gender distribution

Question 7

onset of corneal findings by age 20 but exception to this rule is

Answer 7

fuch’s endothelial dystrophy

Question 8

most important clinical characteristic of corneal dystrophies

Answer 8

primary involvement of single corneal layer

Question 9

Cogan Microcysitic “map-dot-fingerprint” EBMD

Answer 9

most common corneal dystorphy. considered non-hereditary. age 40-70, male=female, asymptomatic. chronic irritation during day, VA fluctuation, photophobia, glare. *Recurrent corneal erosion or RCE

Question 10

EBMD

Answer 10

abnormal BM, lacking hemidesmosomes, defects are sporadic along BM. Abnormal attachment of BM to bowmans

Question 11

EBMD treatment

Answer 11

acute (RCE)vs chronic. abrasion protocol: bandage CL, pressure patch, antibiotic, NSAID, cycloplegic, doxycycline. Lubricants (ung at bedtime), hypertonics

Question 12

meesmann

Answer 12

rare, intraepithelial cysts identified at 6 months, microcysts can rupture later in life. Tearing, photophobia. Vision minimally affected

Question 13

intraepithelial cysts

Answer 13

abnormal basal cells and maturation to squamous, thick BM

Question 14

Reis-Bucklers Dystrophy

Answer 14

rare, painful RCE age 5-20, decreasing episodes by age 30, Bowmans layer replaced by fibrocellular tissue (may affect anterior stroma), irregular corneal surface, scarring, decrease VA

Question 15

stromal dystrophies

Answer 15

lattice, granular, avellino, macular, schnyders, fleck

Question 16

lattice dystrophy (type 1)

Answer 16

age 2-10 onset, VA reduction, RCE common, anterior stromal “inter-lacing” filamentous lesions, white spots, central haze. amyloid deposits, rarely get lattice-like dystrophy secondary to amyloidosis

Question 17

cracked glass appearance under SL

Answer 17

lattice type I

Question 18

lattice type II

Answer 18

similar phenotype but not genotype. central cornea sparing, associated with VII n palsy, peripheral neuropathy, amyloidosis

Question 19

Granular

Answer 19

VA reduction, centrally discrete focal white spots all stromal depths, cornflakes, area between lesions is clear (unknown hyaline like material), RCE is rare

Question 20

seen earliest of dystrophies

Answer 20

granular (in first decade)

Question 21

avellino

Answer 21

granular type II. unique to this area of italy, features similar to lattice and granular, same gene locus as lattice and reis-bucklers

Question 22

Macular Dystrophy

Answer 22

exceptions to dystrophy rule: AR, extends to periphery. VA reduction starts in teens, photophobia, RCE less than Lattice, diffuse ground glass haze lesions, corneal haze between lesions, gray white or milky white opacities throughout stroma and limbus to limbus

Question 23

most severe and least common dystrophy

Answer 23

macular dystrophy

Question 24

excess glycosaminoglycan and abnormal keratocyte storage of mucopulysaccharide is found in

Answer 24

macular dystrophy

Question 25

Schnyder (crystalline)

Answer 25

exception to “dystrophy” rule: associated with systemic hypercholesterolemia (cardiovascular risks), mild VA reduction, No RCE, central haze from annulus, dens arcus ring during 3/4th decades

Question 26

Fleck Dystrophy

Answer 26

gray/white opacities odd shaped incidental finding all levels of stroma

Question 27

endothelial dystrophies

Answer 27

posterior polymorphous (endothelial/desemet's abnormal)
fuchs

Question 28

posterior polymorphous dystrophy (PPD)

Answer 28

asymptomatic, rare reduction in VA (20/30), polymorphous opacities at level of Descemets, maybe corneal edema, glaucoma risk (15% may develope increased IOP)

Question 29

posterior polymorphous abnormal endothelium grows across

Answer 29

trabeculum into iris. Anterior synechia. Increase IOP. Glaucoma risk

Question 30

Fuch’s dystrophy

Answer 30

exceptions to dystrophy rule: higher prevalance in females, age related, may extend to periphery, appears as multilayer involvement, not uncommon

Question 31

corneal edema results in fuch;s dystrophy due to

Answer 31

primary metabolic incompetence of endothelial cells–> endothelial barrier and pump fail

Question 32

fuch’s dystrophy symptoms

Answer 32

VA reduction in advancing stages and RCE

Question 33

Clinical features for fuch’s dystrophy

Answer 33

Guttata, stromal edema, epithelial edema

Question 34

Fuch’s dystrophy assessment

Answer 34

it is just guttata or is it now fuch’s dystrophy?, stromal and epithelial edema occur with breakdown of endothelial barrier and pump. Pachymetry may help assess degree of corneal thickness

Question 35

guttata vs FUchs

Answer 35

fuch’s has increase number of guttata accompanied by corneal edema

Question 36

hassal henle bodies

Answer 36

guttata in periphery

Question 37

stromal edema

Answer 37

hazy in appearance, folds in descemet’s, bullous keratopathy: severe stromal edemal and corneal thickness >30% –> epithelial edema

Question 38

fuchs treatment and management

Answer 38

pt education, lubricants, hypertonics, RCE treatment protocol, Keratoplasty

Question 39

congenital hereditary endothelial dystrophy

Answer 39

not typicla dystrophy (AR), present at birth or 1st decade, no guttata, diffuse stromal edema, Tx: poor results with keratoplasty