Corneal Dystrophies

What are corneal dystrophies?

group of slow progressive bilateral corneal opacification conditions

What is true of ALL corneal dystrophies?

they are non-inflammatory therefore they do not have redness (all have white eyes)

Where do corneal dystrophies affect?

start out in the center of the cornea and migrate to the periphery

What are the epithelial-subepithelial corneal dystrophies?*

Epithelial Basement Membrane Dystrophy (EBMD)

Meesman epithelial dystrophy

What are the epithelial-stromal corneal dystrophies?*

Reis-Buckler and Theil-Behnke

Lattice Dystrophy

Granular Dystrophy

What are the stromal corneal dystrophies?*

macular dystrophy

Schnyder (Crystalline) dystrophy

What are the endothelial corneal dystrophies?

Fuch's Corneal dystrophy

Posterior Polymorphous dystrophy (PPMD)

What is the most common corneal dystrophy?

EBMD, Epithelial Basement Membrane Dystrophy (also known as map-dot-fingerprint or Cogan)

What is the onset for EBMD?

20s

What is the epidemiology for EBMD?

females

no clear inheritance pattern *Unique

What is the pathophysiology of EBMD?

production of abnormal basement membrane resulting in faulty adhesions + elevated epithelial tissue

What is creating the "map" sign in EBMD?

elevated epithelial tissue

negative staining

What is creating the "dot" sign in EBMD?

trapped cellular material within

Which presentation of EBMD is seen in isolation?

Fingerprint 

What is creating the "fingerprint" sign in EBMD?

adjacent rows of thickened + elevated epithelium

What are the symptoms of EBMD?

majority asymptomatic

dry eye symptoms

What is the presentation of EBMD?

maps

dots

fingerprints

negative staining

What do maps look like?

large geographic lesion

What do "dots" in EBMD look like?

little translucent dots

commonly seen with maps

What do "fingerprints" in EBMD look like?

wave lines

When are maps, dots, and fingerprints in EBMD seen?

map + dots are seen together

fingerprints are isolated

What are the complications of EBMD?

Recurrent corneal erosions (RCE)

When do RCEs appear in EBMD?

30s

What are the symptoms of an RCE?

severe pain, especially upon waking

Etiology of Recurrent Corneal Erosion

Hemidesmosomes unable to anchor epithelium to anterior stroma

What is the presentation of an RCE?

epithelial defect that stains with fluorescein

Where are the RCEs located with EBMD?

inferior 1/3 of cornea (resting eyelid)

What is the treatment for asymptomatic patients with EBMD?

nothing (maybe AFT)

Treatment for EBMD patients with Dry Eye

Prophylactic AFT

What is the treatment for mild cases/RCE prevention of EBMD?

hypertonic salt solution

oral tetra/doxycyclines

topical steroids

What is the number one treatment for RCE?

hypertonic salt solution

What is the treatment for moderate to severe EBMD WITH an active RCE(RCE treatment)?

debridement with Q tip

stromal puncture

(optional for card)

bandage CL

phototherapeutic keratectomy

What is the treatment for moderate to severe EBMD with or without active RCE (RCE treatment)?

bandage CL

phototherapeutic keratectomy

What is the inheritance pattern for Messmann epithelial dystrophy?

Autosomal Dominant 

(mutation in gene responsible for producing epithelial keratin)

What is the onset of Messmann epithelial dystrophy??

first year of life

Epithelial-subepithelial dystrophy whose onset is first year of life?

Meesmann epithelial dystrophy

What are the symptoms of Meesmann epithelial dystrophy after 1st decade?

blurred vision (d/t corneal opacification)

What is the cause of symptoms of Meesmann epithelial dystrophy that occur in life?

Intraepithelial cysts and vesicles (opacify and burst)

What are the symptoms of Meesmann epithelial dystrophy that occur later in life?

glare, light sensitivity, discomfort

What causes glare and light sensitivity in Meesmann epithelial dystrophy 

Cysts that opacify 

What is the presentation of Messmann epithelial dystrophy??

intraepithelial cysts

Intraepithealial cysts

cysts start clear and become opaque with age

there is a clear space surrounding the cysts

What is Messmann epithelial dystrophy also called?

juvenile hereditary epithelial dystrophy

What are unique characteristics of the presentation of Messmann epithelial dystrophy??

cysts are smaller than EBMD dots

there is a clear space surrounding the cysts

Where is the location of the cysts seen with Messmann epithelial dystrophy??

concentrated central + interpalpebral, but extend toward limbus

What is the complication of Messmann epithelial dystrophy?

RCE

What is the treatment for asymptomatic Messmann epithelial dystrophy??

nothing

What is the treatment for mild/moderate Messmann epithelial dystrophy?

lubrication if cysts rupture

RCE treatment

What are the treatments for recurrent corneal erosions (RCEs)?

hypertonic salt solution

bandage CL

debridement

stromal puncture

phototherapeutic keratectomy

What is the treatment for severe Messmann epithelial dystrophy?

lamellar keratoplasty

What two dystrophies are variants of eachother?

Reis-Buckler and Theil-Benhke

Where does Reis-Buckler and Theil-Benhke affect?

bilateral

epithelial-stromal

What is the inheritance pattern of Reis-Buckler and Theil-Benhke?

Autosomal Dominant

What is the onset of Reis-Buckler and Theil-Benhke??

first decade

What are the symptoms of Reis-Buckler and Theil-Benhke?

visual complaints: blurred vision, photophobia, diplopia

foreign body sensation and pain

What problem does Reis-Bückler cause?

bowmans layer is replaced by connective tissue

What is the presentation of Reis-Bückler?

grey-white rod-like subepithelial opacities that are more dense central

irregular astigmatism

cornea gets increasingly hazy with age

What is unique about Reis-Bückler??

corneal sensitivity will be reduced

increased central corneal thickness

irregular astigmatism

Between Reis-Bückler and Theil-Benhke, which is more severe?

Reis-Bückler

What is the presentation of Theil-Benhke?

curly opacities in central cornea

opacities for a ring or honeycomb pattern

What is the difference in presentation of opacities in Reis-Bückler and Theil-Benhke?

Reis-Bückler: rod like opacities

Thiel-Benhke: curly opacities, in ring/honeycomb pattern, opacities are less defined than in Reis-Bückler

What is unique about Thiel-Behnke?

will not have corneal irregularities (irregular astigmatism), thickened cornea, or decreased corneal sensation

What are the complications of Reis-Bückler and Theil-Benhke?

RCEs in early childhood

Corneal opacifications (Reis-Bückler worse)

What is unique about the complications of Reis-Bückler and Theil-Benhke??

The RCEs will be present in early childhood

What is the treatment for mild/moderate Reis-Bückler and Theil-Benhke??

Observation

RCE treatment

What is the treatment for severe Reis-Bückler and Theil-Benhke??

Lamellar Keratoplasty if severe corneal involvement (reduced VA)

What is the most common epithelial-stromal dystrophies?

lattice dystrophy

What is the inheritance pattern of lattice dystrophy ?

AD

What systemic condition has signs of lattice dystrophy?

Systemic amyloidosis

What is the pathophysiology of lattice dystrophy?

amyloid deposits accumulated between epithelial basement membrane + bowmans + ant stroma

What are the symptoms of lattice dystrophy?

blurred vision

pain

What is the presentation of lattice dystrophy?

amyloid deposits in anterior stroma

refractive dots and crossing lines

opacification of stroma

reduced corneal sensitivity

Where is lattice dystrophy found?

anterior central cornea

What are the complications of lattice dystrophy?

RCE

blurred vision due to cornea haze

What is the treatment for mild/moderate lattice dystrophy?

observation

RCE treatment

What is the treatment for severe lattice dystrophy?

lamellar keratoplasty

What is the inheritance pattern of granular dystrophy?

AD

When is the onset of granular dystrophy 1?

first decade

When is the onset of granular dystrophy 2?

second decade

What are the two types of granular dystrophy?

granular 1

granular 2

What is granular dystrophy?

hyaline deposition

What are the symptoms of granular dystrophy 1?

asymptomatic early on

blurred vision, photophobia, glare

pain

What is the presentation of granular dystrophy 1?

First:

small, well defined opacities in anterior stroma

clear space between opacities

reduced corneal sensitivity

As disease progressesL

opacities extend posterior

opacities confluence, decreasing clear space between deposits

What are the complications of granular dystrophy?

RCE

What is the treatment for mild-moderate granular dystrophy 1?

Observation

RCE treatment

What is the treatment for severe granular dystrophy 1??

lamellar keratoplasty

phototherapeutic keratectomy

What is unique about the treatment for granular dystrophy 1?

reoccurrence can occur in the graft

What is granular dystrophy 2?

combination of granular dystrophy 1 and lattice dystrophy

What are the symptoms of granular dystrophy 2?

blurred vision

pain

What is the presentation of granular dystrophy 2??

grey-whtite thorn, ring, or stellate opacities in anterior stroma

white lines that dont cross in posterior stroma

What is the treatment of granular dystrophy 2??

observation

RCE treatment

What is the only AR dystrophy?

macular dystrophy

What is the onset of macular dystrophy?

first decade

What is the inheritance pattern of macular dystrophy?

AR

What are the symptoms of macular dystrophy?

blurred vision, significant in 2nd/3rd decade

pain

What is the presentation of macular dystrophy?

ill-defined grey-white deposits that start central and migrate to the limbus

entire cornea appears cloudy

eventual corneal thinning

decreased corneal sensitivity

cornea edema later on'

What is unique about the presentation of macular dystrophy?

has more limbal involvement than any other dystrophy

entire cornea will be cloudy

corneal thinning

Where are the deposits located in macular dystrophy?

anterior and posterior stroma

What are the deposits made up of in macular dystrophy?

mucopolysaccharides