Ch. 18 Congenital Corneal Opacities: Dx & Management

Question 1

Describe the STUMPED classification for congenital corneal opacities

Answer 1

Question 2

laterality and course of sclerocornea?

Answer 2

It is bilateral, but usually asimetric.

It is non progresive.

Question 3

Name the 4 types of sclerocornea according to Waring and Rodriguez

Answer 3

1. Isolated peripheral sclerocornea
2. [sclero]cornea plana
3. Asociated with anterior chamber cleavage abnormalities
4. Total Sclerocornea

Question 4

What is the keratometry of a patient with scelrocornea plana?

Answer 4

<38 D.

Question 5

Is glaucoma a frequent association to cornea plana?

Answer 5

NO

Although patients with this entity have shallow anterior chambers, glaucoma is not usually present.

Question 6

Which type of sclerocornea is the most common?

Answer 6

Total Sclerocornea

Question 7

Name the main 4 Dxdx of sclerocornea

Answer 7

Peter’s anomaly

Microcornea

Interstitial keratitis

Arcos Juvenilis

Question 8

How is interstitial keratitis different from sclerocornea?

Answer 8

it is associated to a red, inflamed eye, and usually has later onset

Question 9

how is peter’s anomaly clinically different from sclerocornea?

Answer 9

Peter’s anomaly is usually a central, focal opacification

while sclerocornea, even in the “total cornea” type, predominates in the periphery.

Question 10

How is arcus juvenilis clinically different from sclerocornea?

Answer 10

Cornea is not vascularized

there is a clear band between the “arcus” and the limbus.

Associated to lipid abnormalities.

Question 11

Inheritance pattern for congenital glaucoma

Answer 11

Sporadic

But may also be AR.

Question 12

According to krachmer, the most important Dxdx in the congenital corneal clouding is ___________ because early treatment can preserve vision, while a delayed diagnosis will lead to irreversible visual loss.

Answer 12

Congenital Glaucoma.

Question 13

Name the congenital glaucoma clinical triad

Answer 13

Photofobia

Epiphora

Blepharospasm

Question 14

What is the phisiopathology of corneal clouding in congenital glaucoma?

Answer 14

At first, epithelial edema due to elevated IOP

Later, corneal hidrops episodes due to breaks in descemet membrane (following severe buphthalmos and DM thinning)

Question 15

Is there a lateral predominance for Haab Striae in birth trauma.

Answer 15

Left eye predominance

Because neonates usually present in the left-occiput-anterior position.

Question 16

What is the natural history for descemet breaks in birth trauma?

Answer 16

It evolves from corneal edema to a clear cornea but with marked astigmatism (4-9D) which requires promt ampliopia-preventing treatment.

Steep meridian paralelles the breaks (produces high WTR astigmatism)

Question 17

Can descemet regenerate after breaks occurring from birth trauma?

Answer 17

_NO

_{Endothelial cells fill the breaks and produce a basal membrane over the defect. The cornea clears, but the striae remain visible with elevated borders and beaten metal appearance occurring from guttae present whithin them.}

Question 18

Treatment of astigmatism after birth trauma?

Answer 18

Patching for anti-ambliopia treatment

Early fitting of RGP lenses is the method of choice to treat astigmatism, with very good results.

Question 19

Which are the main 3 etiological factors causing congenital ulcers?

Answer 19

Herpes Simplex

Bacterial

Neurotrophic

Question 20

What type of Herpes Virus is predominant in congenital Herpetic Keratopathy?

Answer 20

HSV-2 (80%)

_{HSV-1 (20%)}

Question 21

Treatment of choice for ocular neonatal HSV infection?

Answer 21

Intravenous Aciclovir

Question 22

Describe the disease produced by congenital rubella infection?

Answer 22

microfthalmia

cataract

retinitis

iridocyclitis, corneal opacity, nistagmus, strabismus, nasolacrimal duct obstruction, viral dacryoadenitis.

Question 23

How is the diagnosis of congenital rubella made?

Answer 23

Clinical History and confirmation by IgM taken from venous blood, or umbilical cord.

_{(IgM doesn’t cross the placenta)}

Question 24

Initial presentation of Gonorrheal Ophthalmia neonatorum

Answer 24

Severe lid edema in the first 1-3 days postpartum, with abundant watery or serosanguineous discharge

(Purulent stage starts at day 4-5)

Question 25

Treatment for Gonorrheal ophthalmia neonatorum.

Answer 25

Systemic Penicillin G.

In Beta-Lactamase producing infection (resistant to Penicillin) cefotaxime is indicated.

Question 26

Topical treatment for Pseudomononas in neonates.

Answer 26

Fortified Gentamicin or tobramycine.

Question 27

Treatment of choice for congenital chlamydial Corneal infection.

Answer 27

Systemic Erythromycin.

Question 28

Is syphilis a source of congenital corneal opacification?

Answer 28

No

Syphilis can produce corneal opacification, but occurs in the form of interstitial keratitis, in the 2nd-3rd decade of life.

Question 29

Describe Riley-Day syndrome

Answer 29

eneralized dysfunction of the autonomic nervous system resulting in increased sweating, dermal dis- coloration, motor incoordination, cyclic vomiting, blood pressure lability, emotional difficulties, and frequent respira- tory infections.

Can lead to corneal denervation, producing neurotrophic keratitis and congenital opacities.

Question 30

Inheritance of metabolic corneal diseases

Answer 30

AR

With the exception of MPS-II (Hunter’s) X-Linked Recessive

Question 31

Which Mucopolisacaridosis are most likely to produce

Question 32

What type of enzime are affected in the mucopolisacaridosis?

Answer 32

Neuraminidase

Question 33

What mucolipidosis produce congenital corneal clouding?

Answer 33

MLS II & IV

Question 34

How can the diagnosis of a mucopolisacaridosis be confirmed?

Answer 34

Messure the urinary excretion of glucosaminoglicans.

Question 35

Other than corneal deposits, how can cystinosis affect the patient?

Answer 35

Kidney failure

Pancreatic endocrine insufficiency

Hypothyroidism

Myopathy

Neurologic Deficits

Question 36

What therapeutic benefits does topical cysteamine offers to a cystinosis patient?

Answer 36

• Reduced cystine deposition (i.e. After corneal transplant).
• reduce corneal opacities
• Reduce pain caused by corneal erosions

Question 37

What type of metabolic disorder is Fabry disease?

Answer 37

It is a Sphingolipidosis.

Question 38

Inheritance of Fabry’s Disease

Answer 38

X Linked Recessive

Question 39

Name Ocular findigs of Fabry’s Disease

Answer 39

Ocular manifestations can appear as soon as 6 month of age.

• Corneal Opacity (90%)
• Conjuntival vascular changes (60%)
• Retinal vessel tortuosity (55%)
• CAtaratct (50%)
  *

Question 40

How is the corneal opacity of a patient with fabry’s disease?

Answer 40

Initially, a fine diffuse epithelial haze.

Later on, a fine, curving, creamy white lines radiating from a point inferior to the center of the cornea (cornea verticilata)

Question 41

Which tipe of tyrosinemia is related to corneal opacity?

Answer 41

Tyrosinemia type II.

Question 42

What is the triad of Tyrosinemia type II?

Answer 42

Dendriform keratitis

Hiperkeratotic lesions of palms and soles

Mental Retardation

Question 43

How can you differenctiate the keratitis found in a patient of tirosinemia type II form that of Herpes Simplex?

Answer 43

• Morphologic appearance
• bilateral presentation
• Young age (vs any age)
• lack of response to antiviral therapy
• Associated Systemic findings

Question 44

Which enzime is affected in tyrosinemia type II?

Answer 44

Hepatic Cytosol Tyrosine aminotransferase

Question 45

What are the posible corneal manifestations of an infant with fetal alcohol syndrome?

Answer 45

• Variable Corneal Opacities
• Peter’s Anomaly
• Axenfeld-Rieger

Question 46

What percetaje of patients with peter’s anomaly develope glaucoma ?

Answer 46

50%,

_{(or up to 80%)}

Question 47

Laterality of peter’s anomaly?

Answer 47

Bilateral in 80% of cases.

Question 48

What is the difference of peter’s anomaly tipe I and II?

Answer 48

Type I: the mild form. Central corneal opacity associated to iridocorneal adhesions.

Type II: severe form, with involvement of the lens and other ocular abnormalities.

Question 49

Name Histopathological findings of a cornea with peter’s anomaly

Answer 49

• Central ulcer
• Abscent endothelium and descemet’s in the posterior face of the ulcer.
• abnormal bowman’s (thickend or absente…)
• Disordered stromal lamellae in the ulcer’s bed.
• Iridocorneal adhesions to the margin of the ulcer.

Question 50

An error in the micgration of which embriological tissue is responsible for peter’s anomaly?

Answer 50

Neural Crest Cells.

Question 51

Inheritance of peter’s anomaly

Answer 51

Mainly Sporadic

AD and AR have also been documented _{(This must be taken into consideration for genetic counseling)}

Question 52

Is posterior keratoconus related to Keratoconus

Answer 52

NO

It is thought to correspond to a milder variant of peter’s anomaly.

Question 53

Describe the natural course of posterior keratoconus

Answer 53

It hace been classically conceived as a non progressive disorder, usually restricted to the center of the cornea.

It has now been documnted that it can progress to affect corneal survace, anterior curvature and significantly affect visual capacity.

Question 54

Presentation of a patient with Congenital Anterior Staphyloma (corneal )

Answer 54

Congenital anterior staphyloma (CAS) is characterized by a protuberant blue-ish corneal opacity.

It may extend beyond the plane of the eyelids, and secondary epithelial metaplasia into keratinized, stratified, squamous epithelium occurs. The anterior segment frequently is disproportionately enlarged and extremely dis- organized. There is virtually no possibility of attaining useful vision. One or both eyes may be involved.

Question 55

Name the three corneal distrophies that can present with congnital corneal clouding:

Answer 55

• Congenital Endotelial Corneal Dystrophy
• Posterior Polimorphus Corneal Dystrophy
• Congenital Stromal Corneal Dystrophy

Question 56

What is the usual anatomical place where corneal dermoids arrise?

Answer 56

In the inferotemporal corneo scleral junction.

Question 57

Is a Dermoid a choristoma or a hamartoma?

Answer 57

A choristoma

Question 58

Can a Dermoid invade the anterior segment?

Answer 58

It is a benign lesion, with little to no progression at all. Therefore, it is not an invasive tumor.

Never the less, it may involve the deep corneal stroma, descemet and endothelium or even replace all tissue anterior to the iris pigment epithelium.

Question 59

Describe the 3 grades of corneal dermoids:

Answer 59

• Grade 1: <5mm, single, limbal or epibulbar, inferotemporal.
  
  • It may enlarge.
  • is the most frequent type.
  • 1/3-2/3 associated to goldenhar Sd.
  • Associated to other abnormalities of the anterior segment and second branchial Arch.
• Grade 2: Much larger. Covers part or the entire corneal surface.
  
  • Does not affect the endothelium or descemet’s
• Grade 3: Most severe. Total Corneal and anterior segment involved.
  
  • May associate microphthalmos and posterior segment abnormalities.

Question 60

What is this lesion?

Answer 60

Limbal dermoid.

Question 61

Name the following lesion

Answer 61

Corneal Keloid.

_{They are described as white, sometimes protuberant masses with a glistening or jelly-like appearance. The one in the image is protuberant and vascularized, resembling a corneal dermoid, it can be clinically distinguished by the more white-ish color.}