Corneal Dystrophy Flashcards
Define Dystrophy
Dystrophy is a developmental, symmetric and often hereditary changes occurring in original corneal tissue bcos of faulty nutrition, unrelated to other systemic or local diseases
What are the standard Clinical Charax of Corneal Dystrophies?
Autosomal Dominant; Usual onset of corneal findings 20; Bilateral; Slowly progressing changes; No systemic disease associated; No primary ocular disease Hx; Centrally located; Primary involvement of single corneal layer
What percentage of a family will show autosomal dominance for corneal dystrophies and what is the sex distribution?
50% or more and equal distribution between the sexes
Most corneal dystrophies show signs before 20. Which is the exception?
Fuch’s Dystrophy Usually seen in 30’s and 40’s and also more common in women
What is the MOST important clinical charax of corneal dystrophy?
Primary involvement of single corneal layer
What are the three anterior corneal dystrophies?
Coogan Microcystic; Meesman’s; Ries-Buckler’s corneal dystrophies
What are the six stromal corneal dystrophies?
Lattice; Granular; Macular; Schnyder’s; Fleck; Avellino (Type II Granular) corneal dystrophies
What are the two posterior corneal dystrophies?
Fuch’s and Posterior polymorphous corneal dystrophies
What is the most common corneal Dystrophy?
Cogan Microcystic or the Epithelium Basement Membrane Dystrophy (EBMD)
Name the condition in the photo and ID the features
Cogan Microcystic Dystrophy
A: Dots
B: Microcysts
C: Maps (most common)
D: Fingerprints (Least Common)
ID the condition in the photo
EBMD
ID the condition in the photo
Recurrent Corneal Erosion (RCE)
What is the treatment protocol for abrasion caused by EBMD
Bandage CL; Pressure patch; Antibiotics; NSAIDs; Cycloplegics; Doxycycline for MMP inhibition and anti-inflam
What are the three main management approaches for EBMD?
Lubrication with ung, abrasion reduction and hypertonics with 5% NaCl gtt, ung
What is a complication of RCE?
Corneal Scarring
What are the corneal manifestations of Meesmann Corneal Dystrophy?
Tiny intraepithelial round cysts identified as early as 6 months
What is the epidemiology of Meesmann Corneal Dystrophy?
Rare with unknown prevalence
First described in a specific German Population
What are two symptoms of Meesmann dystrophy?
Tearing and Photophobia
To what extent does Meesmann affect vision?
Minimally
The round microcysts of Meesmann Dystrophy can rupture. True/False
True.
They can rupture later in life
ID the condition in the photos
Meesmann Corneal dystrophy
ID the condition in the photos
Meesmann Corneal Dystrophy
What are the corneal manifestations of Reis-Buckler’s Dystrophy?
Painful RCE
Irregular Corneal Surface
Corneal Scarring
In Reis-Buckler’s Dystrophy, when are painful RCE occuring and by what age do they decrease?
5-20 yrs old with decreasing episodes by 30
What layers are affected by Reis-Buckler’s Dystrophy and what impact does this dystrophy have on VA
Anterior stroma to Bowman’s layer;
VA decreases
What is the clinical presentation of Reis-Buckler’s Dystrophy?
Bilateral and symmetrical w/ grey reticular opacities seen mainly in central cornea
ID the condition in the photo
Type I Bowman’s membrane dystrophy aka Reis-Buckler’s Dystrophy
ID the condition in the photos
Bowman’s membrane layer dystrophy type II aka Thiel-Behnke honecomb
How does Lattice Dystrophy (Type I) present?
- anterior stromal “inter-lacing” filamentous lesions, white spots, central haze
- Amyloid deposits
- Rarely - get “lattice-like dystrophy” secondary to amyloidosis (milder and later onset)
What is the typical age of onset?
2-10 yrs of age
Name two charax of Lattice Dystrophy (Type I)
RCE is common and VA reduction occurs
ID the condition in the photo
Lattice Type I (Biber-Haab)
4 yo. White spots
Cracked glass appearance and the diffuse stromal haze are due to what in Lattice Dystrophy (Type I)
Lattice lines and edema respectively
PKP graft recurrence occurs more in ___ than in macular and granular Dystrophies
Lattice Type I
What three conditions are associated with Lattice Dystophy Type II?
- VII n palsy
- peripheral neuropathy
- amyloidosis
which geometric region of cornea is spared in Type II lattice dystrophy?
Central Corneal Sparing
Which of the dystrophies is the earliest to manifest?
Granular Corneal dystrophy
In the first decade
What condition is presented in the photo?
Granular Corneal Dystrophy
How does Granular manifest
•Centrally discrete focal white deposits all at stromal depths, “cornflakes”, area between lesions is clear
Unknown hyaline-like material
What are two features of Granular Corneal Dystrophy?
RCE is rare and VA is reduced and can be severe in patients older than 40
Name the type of dystrophy in the Photo
Avellino (Granular Type II)
Avellino shares the same gene loci as…
Lattice and Reis-Buckler’s Dystrophies
Which is the most common and yet most severe of the dystrophies?
Macular Dystrophy
How does Macular dystrophy manifest?
•diffuse “ground-glass” haze lesions, corneal haze between lesions, gray-white or milky-white opacities throughout stroma, and limbus to limbus
The opacities seen in Macular Dystrophy are due to what?
Excess glycosaminoglycan. Abnormal keratocyte storage of mucopolysaccharide
List the distinct features of Macular Dystrophy
Autosomal recessive; extends to periphery; VA reduction starts in teens; marked in 20-30s; Photophobia; RCE is less than lattice dystrophy
What condition is presented in the photo?
Macular Dystrophy
What systemic condition is Schnyder’s Central Crystalline associated with?
Systemic Hypercholestrolemia
How does Schnyder’s Central Crystalline dystrophy manifest?
central crystals from annulus during 1st to 2nd decades, dense arcus ring froms during 3rd to 4th
What impact does Schnyder’s Central Crystalline dystrophy have on VA? and is RCE involved
Can cause mild VA reduction (20/40)
No RCE presents with this dystrophy
What condition is presented in the photo?
Schnyder’s Crystalline dystrophy
(Rem S is for Sunflower)
Schnyder’s is rare. T/F?
T
What condition is presented in the photo and what features are visible?
Schnyder’s Central Crystalline
Cholesterol deposits
What condition is presented in the photo?
Fleck Dystrophy
What are the manifestations of Fleck dystrophy?
gray/white opacities; odd shaped; inicidental finding
all levels of stroma
How does Posterior Polymorphous Dystrophy (PPD) present?
Polymorphous opacities at the level of Descemet’s
What are the symptoms of PPD
Can be asymptomatic
rare reduction in VA about 20/30
Corneal edema may occur
What percentage of PPD patients may develop increased IOP?
15%
What condition is presented in the photo?
Posterior Polymorphous dystrophy
ID the condition in the photo
SL finding of Posterior polymorphous dystrophy
What are the features of Fuch’s Dystrophy?
- Higher prevalence in females (postmenopausal)
- Age-related (>40)
- May extend to periphery
- Appears as multi-layer involvement
What are the symptoms of Fuch’s Dystrophy?
- VA reduction in advancing stages
- RCE
What are they objective clinical features of Fuch’s Dystrophy?
- Guttata
- Stromal edema
- Epithelial edema
What are three considerations to be made in assessing Fuch’s Dystrophy?
Differential Dx with guttata
•Stromal and epithelial edema occur with breakdown of the endothelial barrier and pump
•Pachymetry: may help assess degree of corneal thickness (stromal edema)
What is the pathophysiology of Fuch’s Dystrophy?
- Na+K+ATPase pump and ion flow
- Endothelial cells do not reproduce, but migrate
Hassal-Henle bodies refers to what?
Guttata in the periphery
Differentiate “normal” guttata from Fuch’s
- guttata: slowly progressive; Seen in uveitis; transient
- Fuchs’ dystrophy: increasing number of guttata accompanied by corneal edema
Describe normal guttata
normal endothelial aging; 11% of normals >50yo;
What condition is presented in the photo?
Guttata
Identify the condition in the photo
Guttata
What condition is presented in the photos?
Fuch’s Dystrophy
Describe Bullous Kerathopathy
severe stromal edema and corneal thickness >30% à epithelial edema
What are the charax of stromal edema?
Hazy in appearance
Possible folds in Descemet’s
ID the condition in the photo
Fuch’s stromal and epithelial edema
What are the treatment and management measures for Fuch’s
- Patient education!!
- Lubricants
- Hypertonics (5% gtt or ung)
- RCE treatment protocol
- Keratoplasty-DLEK
How many PKPs are performed in the U.S. each year?
About 38,000
Endothelial dystrophies accounts for approx ____ of all visual loss that require PKPs to restore
half
What are the clinical manifestations and prognosis for Congenital Hereditary Endothelial Dystrophy?
- Not typical dystrophy: AR
- Present at birth or 1st decade
- No guttata
- Diffuse stromal edema
- Tx poor results with keratoplasty
