Ocular Abnormality- Corneal Disorders 1

Front 1

What is a dystrophy?

Back 1

A dystrophy is an abnormality in growth or development of tissue in the absence of systemic disease

Front 2

How is a dystrophy aquired?

Back 2

• They are usually inherited anomalies affecting both eyes

• They develop slowly from early life

• There are lots of them, but most are very rare

Front 3

Name the most common corneal dystophies?

Back 3

• Epithelial basement membrane dystrophy

• Reis-Buckler dystrophy

• Lattice degeneration

• Granular dystrophy

• Keratoconus (ectatic)

• Keratoglobus (ectatic)

Front 4

What is Epithelial basement membrane dystrophy (EBM)?

Back 4

• The most common corneal dystrophy.

• Bilateral, asymmetrical

• May be poor prognosis for CL wear after age 30

Front 5

What is EBM also known as?

Back 5

map/dot/fingerprint dystrophy or Cogan’s microcystic dystrophy

Front 6

What are the history and symptoms of EBM?

Back 6

• Often symptomless, hence the optometrist is the first to find signs

• 10% give recurrent corneal epithelial erosions (RCEE) >age 30; -> sharp pain on waking and blurred vision

• Rare blurred vision with RCEE

• Most notice fluctuating vision

Front 7

What are the sign of EBM?

Back 7

• Typically first noticed after age 30

• Epithelial microcysts in inferior cornea

• Dots

• Fingerprints

• Maps

Front 8

What is this?

Back 8

Corneal EBM dystrophy - Fingerprints

Front 9

How do you manage EBM?

Back 9

• RCEE (recurrent corneal epithelial erosion) treated with overnight ointment for corneal lubrication

• Bandage lenses are sometimes used

• Superficial Phototherapeutic keratectomy may be used to manage the RCEE

• Screen family members

• EMB: Associated conditions

Front 10

What is Reis-Buckler dystrophy (R-B)?

Back 10

• Bilateral, symmetric, AD inherited, high penetrance, variable expression

Front 11

Is Reis-Buckler dystrophy (R-B) common?

Back 11

Much less common than EBM dystrophy

Front 12

When does Reis-Buckler dystrophy (R-B) develop?

Back 12

Starts in childhood as RCEE, gradually developing

Front 13

What are the history and symptoms of Reis-Buckler dystrophy (R-B)?

Back 13

• Red eyes with sharp pain on waking

• FH+, but variable effects

• Blurred vision in later stages due to corneal scarring

• Later loss of corneal sensation

Front 14

What are the signs of Reis-Buckler dystrophy (R-B)?

Back 14

• RCEE (late childhood)

• Honeycomb of greyish opacities seen in the epithelium, principally centrally (first decade)

• Densest opacities in mid-periphery. The outer 1-2mm are spared

Front 15

What Is this?

Back 15

Reis-Buckler dystrophy (R-B)

Front 16

What is the management for Reis-Buckler dystrophy (R-B)?

Back 16

• Genetic counselling

• RCEE management as for EBM dystrophy

• Superficial keratectomy by 5th decade

• Or PTK (but induces hypermetropia and corneal haze)

Front 17

What is Lattice Dystrophy (LD)?

Back 17

• Bilateral, symmetric, AD inherited, high penetrance

• Very rare

Front 18

What layer of the cornea does Lattice Dystrophy affect (LD)?

Back 18

Anterior stroma

Front 19

When does type 1 Lattice Dystrophy (LD) start?

Back 19

Type 1 starts in first decade, with severe effects

Front 20

When does type 2 Lattice Dystrophy (LD) start?

Back 20

Type 2 starts in middle age with moderate effects

Front 21

What is the history and symptoms of

Lattice Dystrophy (LD)?

Back 21

• FH+

• RCEE Sx

• Blurred vision

Front 22

What are the signs of Lattice Dystrophy (LD)?

Back 22

• Fine translucent, criss-cross lines in anterior stroma of central cornea

• Progress to opacify the spaces between lines and extend to peripheral cornea and deeper stroma

• Epithelial cell loss over the lines

• Facial palsy in type 2

Front 23

What corneal dystrophy is this?

Back 23

Lattice Dystrophy (LD)

Front 24

How do you manage Lattice Dystrophy (LD)?

Back 24

• Genetic counselling

• As for RCEE in EMB and R_B dystrophy

• Type 1 eventually (middle age) requires lamellar or penetrating keratoplasty

• Following this, recurrence occurs, but slowly and concentrated in the peripheral cornea

Front 25

What are Lattice Dystrophy (LD) associated conditions?

Back 25

Systemic amyloidosis in type 2

Front 26

What is Granular Dystrophy (GD)?

Back 26

• Bilateral, symmetric, AD inherited, high penetrance

• Rare

Front 27

What does Granular Dystrophy (GD) effect?

Back 27

Anterior stroma

Front 28

When does type 1 Granular Dystrophy (GD) start?

Back 28

Type 1 starts in first decade, with severe effects

Front 29

When does type 2 Granular Dystrophy (GD) start?

Back 29

Type 2 starts in middle age with moderate effects

Front 30

When does type 3 Granular Dystrophy (GD) start

Back 30

Later in life

Front 31

What are the history and symptoms of Granular Dystrophy (GD)?

Back 31

• FH+

• RCEE Symptoms for type 1

• Blurred vision as disease progresses

Front 32

What are the signs of Granular Dystrophy (GD)?

Back 32

• Small crumb-like white opacities in anterior stroma of central cornea

• The spaces between opacities remain clear, but the opacities grow over time, becoming deeper, spreading to the periphery and becoming confluent

• Epithelial cell loss over the opacities

Front 33

What is corneal dystrophy is this?

Back 33

Granular Dystrophy (GD)

Front 34

How do you manage Granular Dystrophy (GD)?

Back 34

• Genetic counselling

• As for RCEE in EMB, R_B and lattice dystrophy

• Type 1 much less likely to require penetrating keratoplasty than LD

• Type 2 and 3 effects tend to be mild

Front 35

What is Keratoconus?

Back 35

• coning of the cornea

• Bilateral, asymmetrical, familial (AD, variable penetrance)

• Prevalence 1/1000 (common for a dystrophy)

• Prevalence is 1/10 in individuals with Down’s syndrome

Front 36

What is the onset of Keratoconus?

Back 36

Onset typically in early teens and stable by late twenties

Front 37

What are the history and symptoms of Keratoconus?

Back 37

• FH+

• Atopic disease

• Down’s syndrome

• Blurred vision

• Glare

Front 38

What are the signs for Keratoconus?

Back 38

• Scissors reflex, inferior shadow in reflex

• High and rapidly increasing myopia

• High and rapidly increasing astigmatism

• Large, oblique, non-orthogonal, corneal cylinder

• Reduced quality mires

• Inferior and irregular corneal steepening

Front 39

What are the signs for Keratoconus? Part 2

Back 39

• Reduced VA when corrected with spectacle

• RGP VA > spectacle VA

• Thinned cone of cornea centrally and inferiorly

• Ectatic cone of cornea centrally and inferiorly

• Posterior central vertical stromal striae (Vogt’s)

• Bulging of lower lid on downgaze (Munson’s sign)

• Brown ring around base of cone (Fleischer’s ring)

• Anterior stromal scarring

• Breaks in Descemet’s membrane and acute hydrops

Front 40

What is this?

Back 40

Keratoconus

Posterior central vertical stromal striae (Vogt’s)

Front 41

What is this?

Back 41

Keratoconus

Munsen sign

Front 42

What is this?

Back 42

• Brown ring around base of cone (Fleischer’s ring)

Front 43

How do you manage Keratoconus?

Back 43

• 1% risk of a child of a patient inheriting the condition without FH+ (RR=10x)

• Regular spectacle Rx updates

• RGP contact lenses

• Avoid eye rubbing and corneal refractive surgery

• Scleral contact lenses

• Penetrating or deep lamellar keratoplasty (10-20%)

Front 44

What is Keratoglobus?

Back 44

• V rare, bilateral, symmetrical, AD, high penetrance

Front 45

When does Keratoglobus form?

Back 45

Usually slowly developing from birth?

Front 46

What are the signs and symptoms of Keratoglobus?

Back 46

• Thinning throughout cornea, unlike keratoconus, and maximal in mid-periphery (therefore no cone or ring)

• Very deep AC

Front 47

What is the the management for Keratoglobus?

Back 47

• Regular spectacle Rx updates

• RGP contact lenses

• Avoid eye rubbing and corneal refractive surgery

• Scleral contact lenses

• Penetrating or deep lamellar keratoplasty (10-20%)

But more difficult

Front 48

What is this?

Back 48

Keratoglobus

Front 49

What is cornea Guttata?

Back 49

The posterior profile of the cornea is raised in multiple minute excrescences that, especially by indirect illumination, look slightly like raindrops (guttae in Latin) on a window pane

Front 50

Who is cornea Guttata common in?

Back 50

Cornea guttata is very commonly present in older eyes (70% of those over 40 years), though it is often overlooked.

Front 51

What is Fuchs' dystrophy?

Back 51

•Fuchs’ dystrophy usually behaves more like a degeneration than a dystrophy

• AD inheritance Fuchs’ dystrophy patients found the condition in 38% of relatives aged over 40 years

Front 52

Who is Fuchs' dystrophy found in?

Back 52

being found mainly in the elderly

Front 53

What are the association's of Fuchs dystrophy?

Back 53

Open angle glaucoma

Cataracts

Front 54

Three clinical stages of Fuchs’ dystrophy have been identified. Explain stage 1?

Back 54

• Asymptomatic

• Central posterior cornea shows guttata changes and pigment dusting

• Descemet’s membrane appears grey and thickened

Front 55

Three clinical stages of Fuchs’ dystrophy have been identified. Explain stage 2

Back 55

• Visual acuity drops, with diurnal variation (worst on waking)

• Stromal oedema

• Wrinkles in Descemet’s membrane

• Epithelial oedema leading to bullous keratopathy and pain

Front 56

Three clinical stages of Fuchs’ dystrophy have been identified. Explain stage 3

Back 56

• Less pain as collagen is deposited deep in the epithelium

• Vision drops further

Front 57

What is this?

Back 57

Stage 1 of Fuchs dystrophy

Front 58

What is this?

Back 58

Stage 2/3 of Fuchs dystrophy